15-25221421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221421
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221421
    reference: chr 15
allele count: 1
allele frequency: 8.596382642184169e-6
allele num: 116328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3262T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-31T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-31T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1504T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-31T>C
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

15-25221426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221426
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221426
    reference: chr 15
allele count: 2
allele frequency: 1.706251706251706e-5
allele num: 117216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-26C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3257C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-26C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-26C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1499C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

15-25221427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221427
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221427
    reference: chr 15
allele count: 2
allele frequency: 1.702823280999898e-5
allele num: 117452
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1498A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-25A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-25A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3256A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-25A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-25A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-25221430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221430
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221430
    reference: chr 15
allele count: 73
allele frequency: 6.17680904352535e-4
allele num: 118184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-22A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1495A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-22A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3253A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-22A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-22A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30296
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

15-25221435-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221435
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221435
    reference: chr 15
allele count: 2
allele frequency: 1.67937392939912e-5
allele num: 119092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3248T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1490T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-17T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-17T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-17T>G
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/15-25221437-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221437
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221437
    reference: chr 15
allele count: 1
allele frequency: 8.375770570892522e-6
allele num: 119392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-15A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1488A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3246A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-15A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-15A>C
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

15-25221438-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221438
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221438
    reference: chr 15
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-14A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1487A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3245A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-14A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-14A>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-14A>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

15-25221441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221441
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221441
    reference: chr 15
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3242C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*344-11C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.168-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.168-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*198-11C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1484C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.156-11C>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-25221463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221463
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221463
    reference: chr 15
allele count: 4
allele frequency: 3.314111486710413e-5
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.167C>T
  hgvsp: ENSP00000463510.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.167C>T
  hgvsp: ENSP00000382969.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*209C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3220C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*355C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.167C>T
  hgvsp: ENSP00000382970.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.167C>T
  hgvsp: ENSP00000463458.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.179C>T
  hgvsp: ENSP00000408767.2:p.Ala60Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.167C>T
  hgvsp: ENSP00000375105.4:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.167C>T
  hgvsp: ENSP00000462211.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.167C>T
  hgvsp: ENSP00000306223.10:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.167C>T
  hgvsp: ENSP00000382972.1:p.Ala56Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.179C>T
  hgvsp: ENSP00000452342.2:p.Ala60Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1462C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

15-25221464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221464
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221464
    reference: chr 15
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.168G>A
  hgvsp: ENST00000400098.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.168G>A
  hgvsp: ENST00000577565.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.168G>A
  hgvsp: ENST00000400097.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*356G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3219G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.180G>A
  hgvsp: ENST00000554227.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*210G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.168G>A
  hgvsp: ENST00000400100.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1461G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.168G>A
  hgvsp: ENST00000584968.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.168G>A
  hgvsp: ENST00000346403.6:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.168G>A
  hgvsp: ENST00000579070.1:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.180G>A
  hgvsp: ENST00000444203.2:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.168G>A
  hgvsp: ENST00000390687.4:c.168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala56Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

15-25221470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221470
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221470
    reference: chr 15
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000462211
  ensembl transcript: ENST00000584968
  gene symbol: SNRPN
  hgvsc: ENST00000584968.1:c.174A>G
  hgvsp: ENST00000584968.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.174A>G
  hgvsp: ENST00000577565.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.186A>G
  hgvsp: ENST00000554227.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.174A>G
  hgvsp: ENST00000390687.4:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.174A>G
  hgvsp: ENST00000346403.6:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.174A>G
  hgvsp: ENST00000579070.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*362A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.174A>G
  hgvsp: ENST00000400097.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3213A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1455A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.174A>G
  hgvsp: ENST00000400098.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.174A>G
  hgvsp: ENST00000400100.1:c.174A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*216A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.186A>G
  hgvsp: ENST00000444203.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln58Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

15-25221477-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221477
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221477
    reference: chr 15
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.193C>G
  hgvsp: ENSP00000408767.2:p.Arg65Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.181C>G
  hgvsp: ENSP00000306223.10:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.193C>G
  hgvsp: ENSP00000452342.2:p.Arg65Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.181C>G
  hgvsp: ENSP00000463458.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3206C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*223C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.181C>G
  hgvsp: ENSP00000463510.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.181C>G
  hgvsp: ENSP00000375105.4:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.181C>G
  hgvsp: ENSP00000382969.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.181C>G
  hgvsp: ENSP00000382972.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1448C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*369C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.181C>G
  hgvsp: ENSP00000382970.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

15-25221478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221478
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221478
    reference: chr 15
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.182G>A
  hgvsp: ENSP00000382972.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.182G>A
  hgvsp: ENSP00000382970.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.194G>A
  hgvsp: ENSP00000452342.2:p.Arg65His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3205G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.182G>A
  hgvsp: ENSP00000382969.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*370G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.194G>A
  hgvsp: ENSP00000408767.2:p.Arg65His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.182G>A
  hgvsp: ENSP00000306223.10:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.182G>A
  hgvsp: ENSP00000463458.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1447G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.182G>A
  hgvsp: ENSP00000375105.4:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.182G>A
  hgvsp: ENSP00000463510.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61His
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

15-25221479-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221479
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221479
    reference: chr 15
allele count: 45
allele frequency: 3.726831530651119e-4
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.183T>C
  hgvsp: ENST00000400097.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.195T>C
  hgvsp: ENST00000554227.2:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.183T>C
  hgvsp: ENST00000579070.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3204T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.183T>C
  hgvsp: ENST00000400098.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.183T>C
  hgvsp: ENST00000346403.6:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.195T>C
  hgvsp: ENST00000444203.2:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.183T>C
  hgvsp: ENST00000400100.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*225T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1446T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.183T>C
  hgvsp: ENST00000577565.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.183T>C
  hgvsp: ENST00000390687.4:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*371T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

15-25221510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221510
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221510
    reference: chr 15
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.214C>T
  hgvsp: ENST00000577565.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.214C>T
  hgvsp: ENST00000400098.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.226C>T
  hgvsp: ENST00000444203.2:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.226C>T
  hgvsp: ENST00000554227.2:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.214C>T
  hgvsp: ENST00000400097.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.214C>T
  hgvsp: ENST00000400100.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.214C>T
  hgvsp: ENST00000346403.6:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1415C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*256C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.214C>T
  hgvsp: ENST00000579070.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*402C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.214C>T
  hgvsp: ENST00000390687.4:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3173C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu72Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-25221514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221514
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221514
    reference: chr 15
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.230G>A
  hgvsp: ENSP00000408767.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*260G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.218G>A
  hgvsp: ENSP00000382970.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.218G>A
  hgvsp: ENSP00000463458.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.218G>A
  hgvsp: ENSP00000375105.4:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.230G>A
  hgvsp: ENSP00000452342.2:p.Arg77His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.218G>A
  hgvsp: ENSP00000382969.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*406G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.218G>A
  hgvsp: ENSP00000463510.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.218G>A
  hgvsp: ENSP00000306223.10:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3169G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.218G>A
  hgvsp: ENSP00000382972.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1411G>A
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg73His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-25221545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221545
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221545
    reference: chr 15
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3138G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.249G>C
  hgvsp: ENSP00000463510.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1380G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.249G>C
  hgvsp: ENSP00000306223.10:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.249G>C
  hgvsp: ENSP00000375105.4:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.249G>C
  hgvsp: ENSP00000382970.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.249G>C
  hgvsp: ENSP00000382972.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.249G>C
  hgvsp: ENSP00000463458.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*437G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.261G>C
  hgvsp: ENSP00000452342.2:p.Glu87Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.261G>C
  hgvsp: ENSP00000408767.2:p.Glu87Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.249G>C
  hgvsp: ENSP00000382969.1:p.Glu83Asp
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*291G>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu83Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

15-25221551-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221551
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221551
    reference: chr 15
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.255A>G
  hgvsp: ENST00000579070.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.255A>G
  hgvsp: ENST00000390687.4:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.255A>G
  hgvsp: ENST00000400097.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.255A>G
  hgvsp: ENST00000400100.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3132A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.267A>G
  hgvsp: ENST00000554227.2:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.255A>G
  hgvsp: ENST00000346403.6:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*297A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*443A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.267A>G
  hgvsp: ENST00000444203.2:c.267A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.255A>G
  hgvsp: ENST00000400098.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.255A>G
  hgvsp: ENST00000577565.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1374A>G
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro85Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

15-25221553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221553
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221553
    reference: chr 15
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.257C>T
  hgvsp: ENSP00000306223.10:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.257C>T
  hgvsp: ENSP00000375105.4:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.257C>T
  hgvsp: ENSP00000382972.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3130C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*445C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.257C>T
  hgvsp: ENSP00000382970.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.269C>T
  hgvsp: ENSP00000408767.2:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.257C>T
  hgvsp: ENSP00000463510.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.257C>T
  hgvsp: ENSP00000463458.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.269C>T
  hgvsp: ENSP00000452342.2:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.257C>T
  hgvsp: ENSP00000382969.1:p.Pro86Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1372C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro86Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-25221554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221554
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221554
    reference: chr 15
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.258C>T
  hgvsp: ENST00000400097.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.258C>T
  hgvsp: ENST00000577565.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.258C>T
  hgvsp: ENST00000579070.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.270C>T
  hgvsp: ENST00000444203.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1371C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*300C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*446C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.258C>T
  hgvsp: ENST00000390687.4:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.258C>T
  hgvsp: ENST00000400100.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.270C>T
  hgvsp: ENST00000554227.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.258C>T
  hgvsp: ENST00000346403.6:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.258C>T
  hgvsp: ENST00000400098.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3129C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro86Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

15-25221557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
allele count: 28
allele frequency: 2.319186296922108e-4
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.261C>T
  hgvsp: ENST00000346403.6:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1368C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*449C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.261C>T
  hgvsp: ENST00000577565.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.261C>T
  hgvsp: ENST00000579070.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.261C>T
  hgvsp: ENST00000400097.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.261C>T
  hgvsp: ENST00000400100.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.261C>T
  hgvsp: ENST00000400098.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.273C>T
  hgvsp: ENST00000444203.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.273C>T
  hgvsp: ENST00000554227.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3126C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.261C>T
  hgvsp: ENST00000390687.4:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13645
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro87Pro
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: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-25221557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
allele count: 19
allele frequency: 1.573733558625717e-4
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.261C>A
  hgvsp: ENST00000577565.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.261C>A
  hgvsp: ENST00000579070.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.261C>A
  hgvsp: ENST00000400098.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.261C>A
  hgvsp: ENST00000400100.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.261C>A
  hgvsp: ENST00000400097.1:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.273C>A
  hgvsp: ENST00000444203.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*449C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.261C>A
  hgvsp: ENST00000390687.4:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.261C>A
  hgvsp: ENST00000346403.6:c.261C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3126C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1368C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.273C>A
  hgvsp: ENST00000554227.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*303C>A
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro87Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

15-25221557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221557
    reference: chr 15
allele count: 30
allele frequency: 2.484842460987974e-4
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.261C>G
  hgvsp: ENST00000400100.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.261C>G
  hgvsp: ENST00000390687.4:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1368C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*303C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.273C>G
  hgvsp: ENST00000554227.2:c.273C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.261C>G
  hgvsp: ENST00000579070.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.261C>G
  hgvsp: ENST00000400098.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.261C>G
  hgvsp: ENST00000577565.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.273C>G
  hgvsp: ENST00000444203.2:c.273C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.261C>G
  hgvsp: ENST00000346403.6:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.261C>G
  hgvsp: ENST00000400097.1:c.261C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3126C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*449C>G
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro87Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

15-25221563-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221563
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221563
    reference: chr 15
allele count: 55
allele frequency: 4.556978805905845e-4
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279T>C
  hgvsp: ENST00000554227.2:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267T>C
  hgvsp: ENST00000577565.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267T>C
  hgvsp: ENST00000579070.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267T>C
  hgvsp: ENST00000390687.4:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267T>C
  hgvsp: ENST00000346403.6:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267T>C
  hgvsp: ENST00000400098.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1362T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267T>C
  hgvsp: ENST00000400100.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3120T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279T>C
  hgvsp: ENST00000444203.2:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267T>C
  hgvsp: ENST00000400097.1:c.267T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.*455T>C
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

15-25221564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221564
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221564
    reference: chr 15
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3119G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+1G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1361G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+1G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+1G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+1G>A
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*455+1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

15-25221573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221573
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221573
    reference: chr 15
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3110A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1352A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+10A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+10A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+10A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/15-25221577-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221577
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221577
    reference: chr 15
allele count: 3
allele frequency: 2.4916115743663e-5
allele num: 120404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1348A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3106A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+14A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+14A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+14A>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

15-25221578-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221578
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221578
    reference: chr 15
allele count: 6
allele frequency: 4.98355427090601e-5
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+15G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+15G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3105G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1347G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+15G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+15G>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

15-25221584-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221584
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221584
    reference: chr 15
allele count: 125
allele frequency: 1.039483750790008e-3
allele num: 120252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+21G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1341G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3099G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+21G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+21G>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29483
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-25221586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221586
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221586
    reference: chr 15
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3097C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+23C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1339C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+23C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+23C>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/15-25221590-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221590
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221590
    reference: chr 15
allele count: 1
allele frequency: 8.329862557267805e-6
allele num: 120050
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3093A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1335A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+27A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+27A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+27A>C
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  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: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

15-25221594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221594
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221594
    reference: chr 15
allele count: 2
allele frequency: 1.6679454248257e-5
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+31T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+31T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1331T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+31T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3089T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

15-25221596-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221596
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221595
    reference: chr 15
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3084delT
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+36delT
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1326delT
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+36delT
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+36delT
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

15-25221599-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221599
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221598
    reference: chr 15
allele count: 2
allele frequency: 1.669476952870666e-5
allele num: 119798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3083delG
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+37delG
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1325delG
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+37delG
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+37delG
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-25221601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221601
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221601
    reference: chr 15
allele count: 2
allele frequency: 1.677908654652841e-5
allele num: 119196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+38C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+38C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1324C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3082C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+38C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+38C>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

15-25221603-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221603
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221603
    reference: chr 15
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1322G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+40G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3080G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+40G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+40G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+40G>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

15-25221604-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221604
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221604
    reference: chr 15
allele count: 2
allele frequency: 1.673920321392702e-5
allele num: 119480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+41G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3079G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1321G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+41G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+41G>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

15-25221606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221606
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221606
    reference: chr 15
allele count: 1
allele frequency: 8.406186953597848e-6
allele num: 118960
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3077A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+43A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+43A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1319A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+43A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

15-25221607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221607
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221607
    reference: chr 15
allele count: 2
allele frequency: 1.681859463823203e-5
allele num: 118916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+44C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+44C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3076C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+44C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1318C>G
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

15-25221607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221607
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221607
    reference: chr 15
allele count: 21
allele frequency: 1.765952437014363e-4
allele num: 118916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3076C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1318C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+44C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+44C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+44C>T
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-25221610-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221610
    reference: chr 15
allele count: 2
allele frequency: 1.686454398273071e-5
allele num: 118592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1315C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3073C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+47C>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+47C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+47C>A
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

15-25221610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221610
    reference: chr 15
allele count: 2
allele frequency: 1.686454398273071e-5
allele num: 118592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.279+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*309+47C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-1315C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*455+47C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-3073C>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.279+47C>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.267+47C>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

15-25221981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221981
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221981
    reference: chr 15
allele count: 5
allele frequency: 4.143051274402572e-5
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.280-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.280-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*310-43T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2702T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*456-43T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.268-43T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-944T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-25221989-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221989
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221989
    reference: chr 15
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2694T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*310-35T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.280-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.268-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-936T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.280-35T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*456-35T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

15-25221996-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25221996
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25221996
    reference: chr 15
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.280-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*310-28T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-929T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.280-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2687T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*456-28T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.268-28T>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum

15-25222006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222006
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222006
    reference: chr 15
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*310-18T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.280-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-919T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*456-18T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.280-18T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2677T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.268-18T>C
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

15-25222009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222009
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222009
    reference: chr 15
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.280-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.280-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*310-15A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2674A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-916A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*456-15A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.268-15A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

15-25222033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222033
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222033
    reference: chr 15
allele count: 2
allele frequency: 1.656671415791392e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.277G>T
  hgvsp: ENSP00000382972.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.289G>T
  hgvsp: ENSP00000452342.2:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*319G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.277G>T
  hgvsp: ENSP00000306223.10:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.277G>T
  hgvsp: ENSP00000382970.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.277G>T
  hgvsp: ENSP00000382969.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.277G>T
  hgvsp: ENSP00000375105.4:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2650G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.277G>T
  hgvsp: ENSP00000463510.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.289G>T
  hgvsp: ENSP00000408767.2:p.Ala97Ser
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-892G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*465G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.277G>T
  hgvsp: ENSP00000463458.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala93Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

15-25222041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222041
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222041
    reference: chr 15
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.285A>G
  hgvsp: ENST00000400100.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.285A>G
  hgvsp: ENST00000346403.6:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.297A>G
  hgvsp: ENST00000554227.2:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.297A>G
  hgvsp: ENST00000444203.2:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2642A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.285A>G
  hgvsp: ENST00000577565.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.285A>G
  hgvsp: ENST00000400098.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*327A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-884A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.285A>G
  hgvsp: ENST00000579070.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*473A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.285A>G
  hgvsp: ENST00000390687.4:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.285A>G
  hgvsp: ENST00000400097.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val95Val
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

15-25222044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222044
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222044
    reference: chr 15
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.300A>G
  hgvsp: ENST00000444203.2:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.288A>G
  hgvsp: ENST00000400100.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.288A>G
  hgvsp: ENST00000400098.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.288A>G
  hgvsp: ENST00000577565.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-881A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.288A>G
  hgvsp: ENST00000346403.6:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*330A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.288A>G
  hgvsp: ENST00000579070.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.288A>G
  hgvsp: ENST00000400097.1:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2639A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.288A>G
  hgvsp: ENST00000390687.4:c.288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*476A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.300A>G
  hgvsp: ENST00000554227.2:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30967
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro96Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

15-25222056-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222056
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222056
    reference: chr 15
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.300T>C
  hgvsp: ENST00000400100.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-869T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.300T>C
  hgvsp: ENST00000579070.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.300T>C
  hgvsp: ENST00000577565.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.300T>C
  hgvsp: ENST00000346403.6:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.312T>C
  hgvsp: ENST00000554227.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.312T>C
  hgvsp: ENST00000444203.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.300T>C
  hgvsp: ENST00000400098.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.300T>C
  hgvsp: ENST00000400097.1:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2627T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.300T>C
  hgvsp: ENST00000390687.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*488T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*342T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala100Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

15-25222092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222092
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222092
    reference: chr 15
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2591A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.336A>G
  hgvsp: ENST00000346403.6:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.336A>G
  hgvsp: ENST00000577565.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.336A>G
  hgvsp: ENST00000400100.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.348A>G
  hgvsp: ENST00000444203.2:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*524A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.336A>G
  hgvsp: ENST00000400098.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.348A>G
  hgvsp: ENST00000554227.2:c.348A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.336A>G
  hgvsp: ENST00000579070.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.336A>G
  hgvsp: ENST00000400097.1:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-833A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.336A>G
  hgvsp: ENST00000390687.4:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*378A>G
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg112Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-25222096-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222096
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222096
    reference: chr 15
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.340G>T
  hgvsp: ENSP00000375105.4:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.340G>T
  hgvsp: ENSP00000382970.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.352G>T
  hgvsp: ENSP00000452342.2:p.Val118Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.340G>T
  hgvsp: ENSP00000463458.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*382G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.340G>T
  hgvsp: ENSP00000463510.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*528G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.352G>T
  hgvsp: ENSP00000408767.2:p.Val118Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.340G>T
  hgvsp: ENSP00000306223.10:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.340G>T
  hgvsp: ENSP00000382972.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.340G>T
  hgvsp: ENSP00000382969.1:p.Val114Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-829G>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2587G>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val114Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

15-25222103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222103
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222103
    reference: chr 15
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.347C>T
  hgvsp: ENSP00000306223.10:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.359C>T
  hgvsp: ENSP00000452342.2:p.Ala120Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.347C>T
  hgvsp: ENSP00000463510.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.359C>T
  hgvsp: ENSP00000408767.2:p.Ala120Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.347C>T
  hgvsp: ENSP00000375105.4:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.347C>T
  hgvsp: ENSP00000382969.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.347C>T
  hgvsp: ENSP00000382970.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*535C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*389C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2580C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.347C>T
  hgvsp: ENSP00000382972.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.347C>T
  hgvsp: ENSP00000463458.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-822C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala116Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-25222104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222104
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222104
    reference: chr 15
allele count: 6
allele frequency: 4.978344202718176e-5
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2579T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.348T>C
  hgvsp: ENST00000400097.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.360T>C
  hgvsp: ENST00000444203.2:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.348T>C
  hgvsp: ENST00000579070.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.348T>C
  hgvsp: ENST00000400098.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.360T>C
  hgvsp: ENST00000554227.2:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.348T>C
  hgvsp: ENST00000390687.4:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*390T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.348T>C
  hgvsp: ENST00000346403.6:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-821T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.348T>C
  hgvsp: ENST00000577565.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.348T>C
  hgvsp: ENST00000400100.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*536T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala116Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

15-25222118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222118
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222118
    reference: chr 15
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-807C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.362C>T
  hgvsp: ENSP00000306223.10:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.362C>T
  hgvsp: ENSP00000463458.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.374C>T
  hgvsp: ENSP00000408767.2:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.362C>T
  hgvsp: ENSP00000382970.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*404C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.362C>T
  hgvsp: ENSP00000463510.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.362C>T
  hgvsp: ENSP00000382969.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.374C>T
  hgvsp: ENSP00000452342.2:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.362C>T
  hgvsp: ENSP00000375105.4:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*550C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.362C>T
  hgvsp: ENSP00000382972.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2565C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro121Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/15-25222119-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222119
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222119
    reference: chr 15
allele count: 97
allele frequency: 8.057549175970229e-4
allele num: 120384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.363C>A
  hgvsp: ENST00000400100.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.363C>A
  hgvsp: ENST00000400098.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2564C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.363C>A
  hgvsp: ENST00000579070.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*405C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.363C>A
  hgvsp: ENST00000390687.4:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.363C>A
  hgvsp: ENST00000400097.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.363C>A
  hgvsp: ENST00000346403.6:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.375C>A
  hgvsp: ENST00000444203.2:c.375C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.375C>A
  hgvsp: ENST00000554227.2:c.375C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.363C>A
  hgvsp: ENST00000577565.1:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-806C>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*551C>A
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30737
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 14195
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Pro121Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/15-25222121-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222121
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222121
    reference: chr 15
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.365A>C
  hgvsp: ENSP00000306223.10:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.377A>C
  hgvsp: ENSP00000408767.2:p.Gln126Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.365A>C
  hgvsp: ENSP00000463458.1:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.365A>C
  hgvsp: ENSP00000463510.1:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.365A>C
  hgvsp: ENSP00000382969.1:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.365A>C
  hgvsp: ENSP00000382970.1:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.365A>C
  hgvsp: ENSP00000375105.4:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.377A>C
  hgvsp: ENSP00000452342.2:p.Gln126Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*553A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.365A>C
  hgvsp: ENSP00000382972.1:p.Gln122Pro
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2562A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-804A>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*407A>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln122Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

15-25222125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222125
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222125
    reference: chr 15
allele count: 2
allele frequency: 1.662593313049695e-5
allele num: 120294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-800C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.369C>T
  hgvsp: ENST00000579070.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.369C>T
  hgvsp: ENST00000346403.6:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.369C>T
  hgvsp: ENST00000390687.4:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.369C>T
  hgvsp: ENST00000400100.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.381C>T
  hgvsp: ENST00000554227.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.369C>T
  hgvsp: ENST00000400097.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.369C>T
  hgvsp: ENST00000577565.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.369C>T
  hgvsp: ENST00000400098.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*557C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.381C>T
  hgvsp: ENST00000444203.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2558C>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*411C>T
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala123Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

15-25222164-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222164
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222164
    reference: chr 15
allele count: 33
allele frequency: 2.80688622754491e-4
allele num: 117568
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.408A>T
  hgvsp: ENST00000400100.1:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.408A>T
  hgvsp: ENST00000400098.1:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.408A>T
  hgvsp: ENST00000579070.1:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.408A>T
  hgvsp: ENST00000390687.4:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.408A>T
  hgvsp: ENST00000400097.1:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.408A>T
  hgvsp: ENST00000346403.6:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*450A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.420A>T
  hgvsp: ENST00000444203.2:c.420A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*596A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-761A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.408A>T
  hgvsp: ENST00000577565.1:c.408A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2519A>T
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.420A>T
  hgvsp: ENST00000554227.2:c.420A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly136Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

15-25222182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222182
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222182
    reference: chr 15
allele count: 1
allele frequency: 8.728288382648164e-6
allele num: 114570
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+6G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2501G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+6G>A
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+6G>A
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-743G>A
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*608+6G>A
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: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

15-25222206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222206
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222206
    reference: chr 15
allele count: 1
allele frequency: 9.024782051513457e-6
allele num: 110806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-719T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+30T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2477T>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+30T>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+30T>C
  variant of: http://identifiers.org/hgnc/11171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

15-25222210-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222210
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222210
    reference: chr 15
allele count: 26
allele frequency: 2.361704060314288e-4
allele num: 110090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-715G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+34G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+34G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2473G>C
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+34G>C
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5804
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 1
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: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

15-25222211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222211
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222211
    reference: chr 15
allele count: 2
allele frequency: 1.81861167184971e-5
allele num: 109974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2472A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+35A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+35A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-714A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+35A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

15-25222214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222214
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222214
    reference: chr 15
allele count: 2
allele frequency: 1.828989483310471e-5
allele num: 109350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-711A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+38A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+38A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2469A>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+38A>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

15-25222217-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 25222217
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 25222217
    reference: chr 15
allele count: 2
allele frequency: 1.845767654767618e-5
allele num: 108356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000306223
  ensembl transcript: ENST00000346403
  gene symbol: SNRPN
  hgvsc: ENST00000346403.6:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000408767
  ensembl transcript: ENST00000444203
  gene symbol: SNRPN
  hgvsc: ENST00000444203.2:c.432+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000336543
  ensembl transcript: ENST00000338094
  gene symbol: SNURF
  hgvsc: ENST00000338094.6:c.*608+41T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382969
  ensembl transcript: ENST00000400097
  gene symbol: SNRPN
  hgvsc: ENST00000400097.1:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382970
  ensembl transcript: ENST00000400098
  gene symbol: SNRPN
  hgvsc: ENST00000400098.1:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000452342
  ensembl transcript: ENST00000554227
  gene symbol: SNRPN
  hgvsc: ENST00000554227.2:c.432+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463510
  ensembl transcript: ENST00000579070
  gene symbol: SNRPN
  hgvsc: ENST00000579070.1:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000382972
  ensembl transcript: ENST00000400100
  gene symbol: SNRPN
  hgvsc: ENST00000400100.1:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000375105
  ensembl transcript: ENST00000390687
  gene symbol: SNRPN
  hgvsc: ENST00000390687.4:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451898
  ensembl transcript: ENST00000557230
  gene symbol: SNURF
  hgvsc: ENST00000557230.1:c.111-708T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000273173
  ensembl protein: ENSP00000463396
  ensembl transcript: ENST00000580062
  gene symbol: SNURF
  hgvsc: ENST00000580062.1:c.*462+41T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000214265
  ensembl protein: ENSP00000451421
  ensembl transcript: ENST00000551312
  gene symbol: SNURF
  hgvsc: ENST00000551312.2:c.*46-2466T>G
  variant of: http://identifiers.org/hgnc/11171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000128739
  ensembl protein: ENSP00000463458
  ensembl transcript: ENST00000577565
  gene symbol: SNRPN
  hgvsc: ENST00000577565.1:c.420+41T>G
  variant of: http://identifiers.org/hgnc/11164
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14267
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 162
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1143
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30004
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1751
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05977108944468e-4
allele num: 9436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.625e1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 1.557767e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6239
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1930
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1145
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3172
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12190
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6067
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6267
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2356
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541497101985448e-5
allele num: 64872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.365e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.589453e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -5.741000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.229e0

QD
type: SiteQuality
SIO_000300: 1.685e1

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6066
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075787401574803e-5
allele num: 65024
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.96e0

DP
type: SiteQuality
SIO_000300: 1.594695e6

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

GenotypeDepth
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 99
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3178
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1936
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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Other
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allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.028051090875756e-4
allele num: 65452
num of homozygotes: 0

Latino
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allele frequency: 2.207310612749426e-3
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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FS
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MQ
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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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allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65926
num of homozygotes: 0

European (Finnish)
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Other
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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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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Latino
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allele frequency: 8.748906386701662e-5
allele num: 11430
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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African
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VQSLOD
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FS
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InbreedingCoeff
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DP
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QD
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16506
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Other
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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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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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 9.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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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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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 count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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South Asian
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DP
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 2

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

East Asian
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Latino
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allele num: 11572
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.994485073732166e-4
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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allele num: 66736
num of homozygotes: 0

Other
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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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BaseQRankSum
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FS
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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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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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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bin: 6.25e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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African
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Other
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allele num: 900
num of homozygotes: 0

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

East Asian
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 8.67e-1

InbreedingCoeff
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SIO_000300: 5.8e-3

MQ
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SIO_000300: 5.975e1

ReadPosRankSum
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QD
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DP
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SIO_000300: 1.651743e6

VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66734
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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QD
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SIO_000300: 1.231e1

VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.373e0

ReadPosRankSum
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SIO_000300: 1.6e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
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allele num: 66732
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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South Asian
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Latino
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Other
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African
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MQRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 6

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

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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DP
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GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.347417840375587e-3
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

Latino
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allele count: 4
allele frequency: 3.457814661134163e-4
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -2.288e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 3.3e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.654365e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeDepth
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variant carriers: 2

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.455868089233754e-4
allele num: 16496
num of homozygotes: 1

African
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allele count: 45
allele frequency: 4.593711719069008e-3
allele num: 9796
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 9.4e-3

VQSLOD
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MQRankSum
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SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

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: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 1.62e0

QD
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SIO_000300: 1.507e1

VQSLOD
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SIO_000300: -2.328e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.578e0

DP
type: SiteQuality
SIO_000300: 1.650831e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 99
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.646892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
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SIO_000300: -1.072e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.561e1

BaseQRankSum
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SIO_000300: 4.25e0

VQSLOD
type: SiteQuality
SIO_000300: 8.110000000000001e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

East Asian
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allele count: 3
allele frequency: 3.503035964502569e-4
allele num: 8564
num of homozygotes: 0

Other
type: Population
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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BaseQRankSum
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SIO_000300: -4.92e-1

DP
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
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SIO_000300: 1.44e0

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

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

African
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 3.640776699029126e-4
allele num: 16480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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allele num: 66554
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European (Finnish)
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QD
type: SiteQuality
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeDepth
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variant carriers: 16

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 3
allele frequency: 3.072511265874642e-4
allele num: 9764
num of homozygotes: 0

Other
type: Population
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Latino
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allele frequency: 7.82608695652174e-4
allele num: 11500
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East Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 100
allele frequency: 1.504030802550836e-3
allele num: 66488
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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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

Other
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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MQRankSum
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DP
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GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

East Asian
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allele frequency: 2.357378595002357e-4
allele num: 8484
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
type: SiteQuality
SIO_000300: 1.604393e6

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

Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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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num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.026542780182198e-5
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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Latino
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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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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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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 num: 65766
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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variant carriers: 3

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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num of homozygotes: 0

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

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

African
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allele num: 9794
num of homozygotes: 0

Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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East Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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BaseQRankSum
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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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variant carriers: 2

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 count: 0
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num of homozygotes: 0

European (Finnish)
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Latino
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allele num: 11576
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African
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South Asian
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Other
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FS
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MQRankSum
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DP
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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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num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 1.760753e6

MQ
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SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 5.462e0

VQSLOD
type: SiteQuality
SIO_000300: -9.704e-1

MQRankSum
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SIO_000300: 4.64e-1

QD
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ClippingRankSum
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SIO_000300: -1.847e0

InbreedingCoeff
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SIO_000300: 1.6e-3

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 85
allele frequency: 8.700102354145343e-3
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 6.921612735767433e-4
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

South Asian
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allele frequency: 1.220703125e-4
allele num: 16384
num of homozygotes: 0

InbreedingCoeff
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DP
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QD
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
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SIO_000300: -2.453e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 515
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.872e1

VQSLOD
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SIO_000300: -1.507e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

FS
type: SiteQuality
SIO_000300: 4.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

DP
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SIO_000300: 1.757047e6

BaseQRankSum
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SIO_000300: -2.151e0

QD
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SIO_000300: 7.72e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1846
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variant carriers: 2

GenotypeQuality
all individuals: 9540
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

DP
type: SiteQuality
SIO_000300: 1.755424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 32

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.211009174311927e-3
allele num: 6540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14930
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.679030436242635e-4
allele num: 65514
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQ
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DP
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.1e-3

FS
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SIO_000300: 2.899e0

VQSLOD
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SIO_000300: 1.9e0

ClippingRankSum
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SIO_000300: -6.53e-1

BaseQRankSum
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SIO_000300: 1.94e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele count: 0
allele frequency: 0.0e0
allele num: 64346
num of homozygotes: 0

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

East Asian
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Other
type: Population
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African
type: Population
allele count: 1
allele frequency: 1.05797714769361e-4
allele num: 9452
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Latino
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num of homozygotes: 0

South Asian
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MQRankSum
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SIO_000300: 1.12e0

BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.592458118351487e-5
allele num: 62796
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DP
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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SIO_000300: 1.09e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeDepth
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variant carriers: 3

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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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24856
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 1665
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

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

African
type: Population
allele count: 26
allele frequency: 2.829162132752992e-3
allele num: 9190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 1.567e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.382373e6

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2062
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11480
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3424
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.409058058299205e-4
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.37114e6

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 4.232e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

QD
type: SiteQuality
SIO_000300: 1.053e1

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeDepth
all individuals: 15301
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11743
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.216882197773918e-5
allele num: 62172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.092e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

DP
type: SiteQuality
SIO_000300: 1.335141e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

GenotypeDepth
all individuals: 1433
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4422
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16785
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0