14-78186880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186880
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186880
    reference: chr 14
allele count: 2
allele frequency: 6.781040211568454e-5
allele num: 29494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4658A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+174T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.286A>G
  hgvsp: ENSP00000452057.1:p.Ile96Val
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+174T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4658A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9641A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+174T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+174T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32938
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9729
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile96Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-78186881-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186881
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186881
    reference: chr 14
allele count: 1
allele frequency: 3.307534563736191e-5
allele num: 30234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+173A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9642T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4659T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.287T>G
  hgvsp: ENSP00000452057.1:p.Ile96Arg
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4659T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+173A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+173A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+173A>C
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile96Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-78186884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186884
    reference: chr 14
allele count: 2
allele frequency: 5.930494603249911e-5
allele num: 33724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4662G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9645G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+170C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+170C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+170C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4662G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.290G>C
  hgvsp: ENSP00000452057.1:p.Arg97Thr
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+170C>G
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg97Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

14-78186885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186885
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186885
    reference: chr 14
allele count: 29
allele frequency: 8.208321539767903e-4
allele num: 35330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+169T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+169T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9646A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+169T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4663A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4663A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.291A>G
  hgvsp: ENST00000557623.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+169T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35148
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg97Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

14-78186887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186887
    reference: chr 14
allele count: 1
allele frequency: 2.713262426741914e-5
allele num: 36856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+167C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+167C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+167C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9648G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.293G>A
  hgvsp: ENSP00000452057.1:p.Ser98Asn
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+167C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4665G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4665G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser98Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

14-78186893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186893
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186893
    reference: chr 14
allele count: 1
allele frequency: 2.21141088014153e-5
allele num: 45220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+161T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+161T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4671A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+161T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4671A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+161T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9654A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-78186906-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186906
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186906
    reference: chr 14
allele count: 1
allele frequency: 1.460152439914727e-5
allele num: 68486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+148G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4684C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9667C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+148G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+148G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+148G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*15C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4684C>A
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

14-78186909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186909
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186909
    reference: chr 14
allele count: 1
allele frequency: 1.317870321560358e-5
allele num: 75880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+145G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+145G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+145G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4687C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+145G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9670C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4687C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

14-78186911-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186911
    reference: chr 14
allele count: 1
allele frequency: 1.256565555025006e-5
allele num: 79582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+143A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+143A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+143A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+143A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*20T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4689T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9672T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4689T>G
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-78186918-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186918
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186918
    reference: chr 14
allele count: 1
allele frequency: 1.082274508106236e-5
allele num: 92398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+136T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+136T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4696A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+136T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9679A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4696A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+136T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*27A>C
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-78186939-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186939
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186938
    reference: chr 14
allele count: 13
allele frequency: 1.141151685393258e-4
allele num: 113920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*55delT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4724delT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9707delT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+114delA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+114delA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+114delA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4724delT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+114delA
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: AT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

14-78186939-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78186939
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78186940
    reference: chr 14
allele count: 1
allele frequency: 8.77808988764045e-6
allele num: 113920
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+114dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+114dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9707dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*55dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+114dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+114dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4724dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4724dupT
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

14-78187004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187004
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187004
    reference: chr 14
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4782G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+50C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4782G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9765G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+50C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+50C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+50C>T
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12053
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

14-78187012-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187012
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187012
    reference: chr 14
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4790A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+42T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+42T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*121A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4790A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+42T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+42T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9773A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

14-78187013-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187013
    reference: chr 14
allele count: 18
allele frequency: 1.484070971571796e-4
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+41A>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+41A>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9774T>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*122T>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4791T>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4791T>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+41A>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+41A>T
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/14-78187021-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187021
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187021
    reference: chr 14
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+33T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+33T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+33T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4799A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+33T>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*130A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9782A>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4799A>C
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

14-78187028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187028
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187028
    reference: chr 14
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9789A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+26T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4806A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+26T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+26T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*137A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4806A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+26T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

14-78187032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187032
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187032
    reference: chr 14
allele count: 11059
allele frequency: 9.11616328145608e-2
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+22A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9793T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+22A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*141T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+22A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+22A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4810T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4810T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 3.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 13141
  bin: 9.75e1
  variant carriers: 9013
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 5.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 2.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 2.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 9.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 8.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 6.75e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 699
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

14-78187036-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187036
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187036
    reference: chr 14
allele count: 8
allele frequency: 6.595000989250148e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+18G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+18G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+18G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4814C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+18G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4814C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9797C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5441
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-78187042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187042
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187042
    reference: chr 14
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4820C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1248+12G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9803C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1248+12G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.762+12G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1082+12G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4820C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*151C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-78187056-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187056
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187056
    reference: chr 14
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1246A>C
  hgvsp: ENSP00000451129.1:p.Lys416Gln
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9817T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*165T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4834T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.760A>C
  hgvsp: ENSP00000452059.1:p.Lys254Gln
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1080A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4834T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1246A>C
  hgvsp: ENSP00000261531.7:p.Lys416Gln
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys416Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-78187060-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187060
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187060
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1242A>G
  hgvsp: ENST00000555761.1:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9821T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4838T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1242A>G
  hgvsp: ENST00000261531.7:c.1242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1076A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.756A>G
  hgvsp: ENST00000554775.1:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*169T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4838T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln414Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

14-78187064-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187064
    reference: chr 14
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.752A>G
  hgvsp: ENSP00000452059.1:p.Asn251Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1238A>G
  hgvsp: ENSP00000451129.1:p.Asn413Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4842T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4842T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9825T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1238A>G
  hgvsp: ENSP00000261531.7:p.Asn413Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*173T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1072A>G
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn413Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

14-78187093-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187093
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187093
    reference: chr 14
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*202A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4871A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1043T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1209T>C
  hgvsp: ENST00000261531.7:c.1209T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9854A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1209T>C
  hgvsp: ENST00000555761.1:c.1209T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.723T>C
  hgvsp: ENST00000554775.1:c.723T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4871A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn403Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-78187094-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187094
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187094
    reference: chr 14
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1042A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1208A>G
  hgvsp: ENSP00000451129.1:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.722A>G
  hgvsp: ENSP00000452059.1:p.Asn241Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*203T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9855T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4872T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4872T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1208A>G
  hgvsp: ENSP00000261531.7:p.Asn403Ser
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45150
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn403Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS

14-78187103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187103
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187103
    reference: chr 14
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1199G>A
  hgvsp: ENSP00000451129.1:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*212C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.713G>A
  hgvsp: ENSP00000452059.1:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1199G>A
  hgvsp: ENSP00000261531.7:p.Arg400Gln
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1033G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9864C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4881C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4881C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg400Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-78187104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187104
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187104
    reference: chr 14
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4882G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*213G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9865G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.712C>T
  hgvsp: ENSP00000452059.1:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4882G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1198C>T
  hgvsp: ENSP00000261531.7:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1032C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1198C>T
  hgvsp: ENSP00000451129.1:p.Arg400Trp
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg400Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

14-78187119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187119
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187119
    reference: chr 14
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4897C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.697G>A
  hgvsp: ENSP00000452059.1:p.Gly233Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*228C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1183G>A
  hgvsp: ENSP00000261531.7:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4897C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1183G>A
  hgvsp: ENSP00000451129.1:p.Gly395Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9880C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1017G>A
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly395Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

14-78187120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187120
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187120
    reference: chr 14
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9881G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.696C>T
  hgvsp: ENST00000554775.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1182C>T
  hgvsp: ENST00000555761.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1016C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4898G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1182C>T
  hgvsp: ENST00000261531.7:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4898G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu394Leu
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: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

14-78187123-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187123
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187123
    reference: chr 14
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4901A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1179T>C
  hgvsp: ENST00000555761.1:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9884A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1179T>C
  hgvsp: ENST00000261531.7:c.1179T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4901A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*232A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.693T>C
  hgvsp: ENST00000554775.1:c.693T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*1013T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala393Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

14-78187137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187137
    reference: chr 14
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*246T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.679A>G
  hgvsp: ENSP00000452059.1:p.Ser227Gly
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1165A>G
  hgvsp: ENSP00000261531.7:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1165A>G
  hgvsp: ENSP00000451129.1:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4915T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4915T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*999A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9898T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser389Gly
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-78187139-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187139
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187139
    reference: chr 14
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1163T>C
  hgvsp: ENSP00000451129.1:p.Ile388Thr
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4917A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9900A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.677T>C
  hgvsp: ENSP00000452059.1:p.Ile226Thr
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*997T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4917A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1163T>C
  hgvsp: ENSP00000261531.7:p.Ile388Thr
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*248A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45144
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile388Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

14-78187148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187148
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187148
    reference: chr 14
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1154A>G
  hgvsp: ENSP00000451129.1:p.Asn385Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4926T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1154A>G
  hgvsp: ENSP00000261531.7:p.Asn385Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4926T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*988A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.668A>G
  hgvsp: ENSP00000452059.1:p.Asn223Ser
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*257T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9909T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn385Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-78187153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187153
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187153
    reference: chr 14
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.663T>C
  hgvsp: ENST00000554775.1:c.663T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1149T>C
  hgvsp: ENST00000261531.7:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1149T>C
  hgvsp: ENST00000555761.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4931A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9914A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*262A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*983T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4931A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn383Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

14-78187168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187168
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187168
    reference: chr 14
allele count: 4
allele frequency: 3.301855642871293e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*968G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1134G>A
  hgvsp: ENST00000261531.7:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.648G>A
  hgvsp: ENST00000554775.1:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9929C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4946C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1134G>A
  hgvsp: ENST00000555761.1:c.1134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4946C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser378Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-78187179-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187179
    reference: chr 14
allele count: 4
allele frequency: 3.309450134860093e-5
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-8C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-8C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4957G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*288G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-8C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9940G>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-8C>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4957G>C
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1131-8C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

14-78187183-TACG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187183
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187180
    reference: chr 14
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*295_*297delGAC
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4964_264+4966delGAC
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-15_1131-13delCGT
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-15_1131-13delCGT
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4964_216+4966delGAC
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9947_108+9949delGAC
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-15_645-13delCGT
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-15_*965-13delCGT
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: TACG
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

14-78187185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187185
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187185
    reference: chr 14
allele count: 3
allele frequency: 2.48554242820925e-5
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4963C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-14G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-14G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4963C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9946C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-14G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*294C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-14G>A
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

14-78187186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187186
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187186
    reference: chr 14
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*295G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-15C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4964G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-15C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4964G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-15C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9947G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-15C>T
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

14-78187186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187186
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187186
    reference: chr 14
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-15C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9947G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-15C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4964G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4964G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-15C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*295G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-15C>A
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3588
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

14-78187193-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187193
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187193
    reference: chr 14
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*302C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-22G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9954C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4971C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-22G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-22G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-22G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4971C>G
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

14-78187206-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187206
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187204
    reference: chr 14
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-37_1131-36delAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-37_1131-36delAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9969_108+9970delTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-37_*965-36delAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4986_264+4987delTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*317_*318delTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-37_645-36delAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4986_216+4987delTT
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45134
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: CTT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

14-78187209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187209
    reference: chr 14
allele count: 3
allele frequency: 2.494387627837366e-5
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-38A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-38A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*318T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-38A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9970T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-38A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4987T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4987T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45133
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

14-78187212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187212
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187212
    reference: chr 14
allele count: 4
allele frequency: 3.329615262956365e-5
allele num: 120134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-41T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-41T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-41T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*321A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+4990A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+4990A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9973A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-41T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6009
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-78187223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78187223
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78187223
    reference: chr 14
allele count: 3
allele frequency: 2.50861290430478e-5
allele num: 119588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1131-52T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452057
  ensembl transcript: ENST00000557623
  gene symbol: SLIRP
  hgvsc: ENST00000557623.1:c.*332A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1131-52T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+5001A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*965-52T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.645-52T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+9984A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+5001A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6008
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45134
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-78188878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188878
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78188878
    reference: chr 14
allele count: 1207
allele frequency: 1.142559636501325e-1
allele num: 10564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+646A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6656T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+646A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6656T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+646A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+646A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11639T>C
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 207
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 2.75e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.75e1
  variant carriers: 1092
num of homozygotes: 76
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-78188884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78188884
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78188884
    reference: chr 14
allele count: 1
allele frequency: 9.485866059571239e-5
allele num: 10542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11645T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6662T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6662T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+640A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+640A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+640A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+640A>G
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

14-78189136-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189136
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189136
    reference: chr 14
allele count: 1113
allele frequency: 1.801553900938815e-1
allele num: 6178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6914G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+388C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11897G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+388C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+388C>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6914G>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+388C>A
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.25e1
  variant carriers: 661
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 474
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 2.5e0
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 2.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 33
num of homozygotes: 99
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-78189137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189137
    reference: chr 14
allele count: 1
allele frequency: 1.723543605653223e-4
allele num: 5802
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+387G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+387G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+387G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+387G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11898C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6915C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6915C>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 159
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

14-78189144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189144
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189144
    reference: chr 14
allele count: 8
allele frequency: 1.385041551246537e-3
allele num: 5776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+380T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6922A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+380T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+380T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6922A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11905A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+380T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 468
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2240
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 2204
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 553
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2672
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-78189157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189157
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189157
    reference: chr 14
allele count: 3
allele frequency: 5.253940455341507e-4
allele num: 5710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11918C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+367G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+367G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+367G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6935C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6935C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+367G>A
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 2840
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 543
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

14-78189161-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189161
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189161
    reference: chr 14
allele count: 1
allele frequency: 1.75377060680463e-4
allele num: 5702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6939T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11922T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6939T>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+363A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+363A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+363A>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+363A>C
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 657
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 554
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

14-78189177-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189177
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189178
    reference: chr 14
allele count: 107
allele frequency: 2.044325563622468e-2
allele num: 5234
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6956dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+346dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11939dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+346dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6956dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+346dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+346dupA
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 7
num of homozygotes: 1
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-78189177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189177
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189177
    reference: chr 14
allele count: 2
allele frequency: 3.821169277799006e-4
allele num: 5234
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+347T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+347T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+347T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+347T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6955A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11938A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6955A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum

14-78189178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189178
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189178
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 5318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+346A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11939T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6956T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+346A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6956T>C
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+346A>G
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+346A>G
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-78189179-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189179
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189180
    reference: chr 14
allele count: 1
allele frequency: 2.539360081259522e-4
allele num: 3938
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6958dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+344dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+344dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6958dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11941dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+344dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+344dupA
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

14-78189181-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189181
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189182
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 480
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+342dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+342dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11964dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6981dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6981dupT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+342dupA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+342dupA
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

14-78189181-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189181
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189183
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 480
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+341_644+342dupAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11963_108+11964dupTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+341_1130+342dupAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+341_1130+342dupAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+341_*964+342dupAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6980_216+6981dupTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6980_264+6981dupTT
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.5e0
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-78189181-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189181
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189184
    reference: chr 14
allele count: 51
allele frequency: 1.0625e-1
allele num: 480
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+6979_216+6981dupTTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+6979_264+6981dupTTT
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+340_*964+342dupAAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+340_644+342dupAAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+340_1130+342dupAAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+340_1130+342dupAAA
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11962_108+11964dupTTT
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 48
num of homozygotes: 25
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

14-78189227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189227
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189227
    reference: chr 14
allele count: 1
allele frequency: 2.265518803806072e-4
allele num: 4414
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7005G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+297C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+297C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7005G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+297C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+297C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11988G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-78189236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189236
    reference: chr 14
allele count: 265
allele frequency: 5.968468468468469e-2
allele num: 4440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+11997G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+288C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7014G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+288C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+288C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7014G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+288C>T
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 2.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 7.5e0
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 6
num of homozygotes: 7
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

14-78189243-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189243
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189243
    reference: chr 14
allele count: 1
allele frequency: 2.421307506053269e-4
allele num: 4130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12004A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7021A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+281T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7021A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+281T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+281T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+281T>C
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7674
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

14-78189481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189481
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189481
    reference: chr 14
allele count: 2
allele frequency: 1.649838315845047e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+43G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7259C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+43G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+43G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+43G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12242C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7259C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

14-78189482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189482
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189482
    reference: chr 14
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7260G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+42C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7260G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+42C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+42C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+42C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12243G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-78189483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189483
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189483
    reference: chr 14
allele count: 6
allele frequency: 4.946821667078902e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+41G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+41G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+41G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7261C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+41G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12244C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7261C>T
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4573
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

14-78189485-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189485
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189485
    reference: chr 14
allele count: 7
allele frequency: 5.772529357435018e-5
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+39G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+39G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7263C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7263C>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+39G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+39G>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12246C>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29003
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

14-78189485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189485
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189485
    reference: chr 14
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7263C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+39G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+39G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12246C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7263C>T
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+39G>A
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+39G>A
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-78189486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189486
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189486
    reference: chr 14
allele count: 6
allele frequency: 4.94649540800343e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+38C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+38C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+38C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7264G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7264G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+38C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12247G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29007
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-78189492-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189492
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189492
    reference: chr 14
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7270C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12253C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+32G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7270C>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+32G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+32G>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+32G>T
  variant of: http://identifiers.org/hgnc/16696
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-78189493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189493
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189493
    reference: chr 14
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+31T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12254A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+31T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7271A>G
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+31T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+31T>C
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7271A>G
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

14-78189499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 78189499
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 78189499
    reference: chr 14
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000261531
  ensembl transcript: ENST00000261531
  gene symbol: SNW1
  hgvsc: ENST00000261531.7:c.1130+25C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000452059
  ensembl transcript: ENST00000554775
  gene symbol: SNW1
  hgvsc: ENST00000554775.1:c.644+25C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451129
  ensembl transcript: ENST00000555761
  gene symbol: SNW1
  hgvsc: ENST00000555761.1:c.1130+25C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452329
  ensembl transcript: ENST00000556310
  gene symbol: SLIRP
  hgvsc: ENST00000556310.1:c.216+7277G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000452162
  ensembl transcript: ENST00000556375
  gene symbol: SLIRP
  hgvsc: ENST00000556375.1:c.108+12260G>A
  variant of: http://identifiers.org/hgnc/20495
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100603
  ensembl protein: ENSP00000451741
  ensembl transcript: ENST00000556428
  gene symbol: SNW1
  hgvsc: ENST00000556428.1:c.*964+25C>T
  variant of: http://identifiers.org/hgnc/16696
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000119705
  ensembl protein: ENSP00000450849
  ensembl transcript: ENST00000557431
  gene symbol: SLIRP
  hgvsc: ENST00000557431.1:c.264+7277G>A
  variant of: http://identifiers.org/hgnc/20495
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
reference allele: G

GenotypeQuality
all individuals: 569
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 724
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.013171225937183e-3
allele num: 1974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.582e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 6.157e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.28e-2

DP
type: SiteQuality
SIO_000300: 6.23198e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.23e-1

GenotypeQuality
all individuals: 33287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.237984944991314e-5
allele num: 13816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.511e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 6.32077e5

MQ
type: SiteQuality
SIO_000300: 5.635e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

QD
type: SiteQuality
SIO_000300: 8.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.152852529601722e-4
allele num: 9290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2410
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 6.64461e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

QD
type: SiteQuality
SIO_000300: 8.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.061e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 29

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 1.257033401173231e-3
allele num: 16706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 3.715498938428875e-3
allele num: 1884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.894080996884735e-4
allele num: 2568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.471e1

DP
type: SiteQuality
SIO_000300: 6.75777e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 3.121e0

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 678
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.863813229571985e-4
allele num: 2056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1994
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.93907e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.186e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

DP
type: SiteQuality
SIO_000300: 7.614e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 2.12e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.916443081640475e-4
allele num: 5218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12112
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.269e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 7.876496534341525e-5
allele num: 12696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.102e0

BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 1
allele frequency: 1.764290755116443e-4
allele num: 5668
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42036
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6140
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Latino
type: Population
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num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
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allele num: 14084
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7200
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.019793981013937e-5
allele num: 49510
num of homozygotes: 0

Other
type: Population
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Latino
type: Population
allele count: 0
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East Asian
type: Population
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6434
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South Asian
type: Population
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allele frequency: 6.254691018263698e-5
allele num: 15988
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.628036843287654e-5
allele num: 62318
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 6
allele frequency: 7.385524372230429e-4
allele num: 8124
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.498e0

MQ
type: SiteQuality
SIO_000300: 6.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

DP
type: SiteQuality
SIO_000300: 1.383592e6

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 423
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604672807214609e-5
allele num: 62318
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.383592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.026e1

QD
type: SiteQuality
SIO_000300: 1.021e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.498e0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

FS
type: SiteQuality
SIO_000300: 7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

DP
type: SiteQuality
SIO_000300: 4.34683e6

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47000
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

DP
type: SiteQuality
SIO_000300: 4.346709e6

QD
type: SiteQuality
SIO_000300: 1.957e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: -9.754e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 4.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46999
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 18
allele frequency: 1.730103806228374e-3
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.347138e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 1557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46991
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 5.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e0

DP
type: SiteQuality
SIO_000300: 4.346403e6

QD
type: SiteQuality
SIO_000300: 1.376e1

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 909
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46990
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 9.64e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 4.347493e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47594
bin: 9.75e1
variant carriers: 10345

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

GenotypeQuality
all individuals: 1508
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 2192
allele frequency: 2.106881968473664e-1
allele num: 10404
num of homozygotes: 243

European (Non-Finnish)
type: Population
allele count: 6491
allele frequency: 9.733677233602256e-2
allele num: 66686
num of homozygotes: 344

East Asian
type: Population
allele count: 49
allele frequency: 5.662121562283337e-3
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 844
allele frequency: 5.125091085742045e-2
allele num: 16468
num of homozygotes: 25

European (Finnish)
type: Population
allele count: 819
allele frequency: 1.238282431206532e-1
allele num: 6614
num of homozygotes: 64

Latino
type: Population
allele count: 600
allele frequency: 5.182242183451374e-2
allele num: 11578
num of homozygotes: 22

Other
type: Population
allele count: 64
allele frequency: 7.048458149779736e-2
allele num: 908
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 4.702301e6

VQSLOD
type: SiteQuality
SIO_000300: 3.72e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 1.567e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 9.25e1
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GenotypeQuality
all individuals: 45157
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1850
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.857906242409522e-4
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 3.637723e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

FS
type: SiteQuality
SIO_000300: 2.261e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

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

GenotypeQuality
all individuals: 1560
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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FS
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66726
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African
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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ClippingRankSum
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QD
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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African
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East Asian
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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African
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European (Finnish)
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DP
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66720
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.902e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 1.459e0

BaseQRankSum
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DP
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MQRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 2.25e1
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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bin: 9.25e1
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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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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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SIO_000300: 3.64161e6

QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.31e-2

ReadPosRankSum
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SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 3.641193e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

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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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.954e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 7.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.002040693835904e-5
allele num: 66644
num of homozygotes: 0

Other
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allele num: 900
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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DP
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

African
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South Asian
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allele frequency: 2.477086945751796e-4
allele num: 16148
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 898
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FS
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
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ReadPosRankSum
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DP
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MQ
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QD
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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African
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South Asian
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

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

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 1.1023e1

BaseQRankSum
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SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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variant carriers: 0

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

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: 16052
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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DP
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.908e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: -1.795e0

MQ
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SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.617343e6

QD
type: SiteQuality
SIO_000300: 1.022e1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.282196255811031e-5
allele num: 15918
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.7441e1

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.268e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: -3.323e0

DP
type: SiteQuality
SIO_000300: 3.607434e6

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
all individuals: 1072
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00960062599693e-5
allele num: 66454
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.1e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 3.590506e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1071
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 777
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515352197471403e-5
allele num: 66440
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15714
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.587262e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.413e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

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

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.583968e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1082
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508932882665379e-5
allele num: 66272
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.929012345679012e-4
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15238
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

South Asian
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allele count: 987
allele frequency: 1.338849701573522e-1
allele num: 7372
num of homozygotes: 70

Latino
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allele frequency: 6.521739130434782e-2
allele num: 92
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East Asian
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allele frequency: 2.230769230769231e-1
allele num: 130
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African
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allele count: 16
allele frequency: 8.51063829787234e-2
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 160
allele frequency: 6.006006006006006e-2
allele num: 2664
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 7.627118644067797e-2
allele num: 118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -8.3e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
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DP
type: SiteQuality
SIO_000300: 1.4536e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 330
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GenotypeQuality
all individuals: 1986
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2660
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.3598041881969e-4
allele num: 7354
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QD
type: SiteQuality
SIO_000300: 1.381e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 4.091e0

VQSLOD
type: SiteQuality
SIO_000300: -1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.157e0

GenotypeQuality
all individuals: 43
bin: 7.25e1
variant carriers: 39

GenotypeQuality
all individuals: 890
bin: 9.75e1
variant carriers: 890

GenotypeQuality
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bin: 5.75e1
variant carriers: 41

GenotypeQuality
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bin: 6.75e1
variant carriers: 29

GenotypeQuality
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bin: 7.75e1
variant carriers: 45

GenotypeQuality
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bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 38

GenotypeQuality
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bin: 9.25e1
variant carriers: 46

GenotypeQuality
all individuals: 434
bin: 2.75e1
variant carriers: 31

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 44

East Asian
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allele count: 4
allele frequency: 3.278688524590164e-2
allele num: 122
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.25e-1
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 625
allele frequency: 1.501681883709755e-1
allele num: 4162
num of homozygotes: 39

Latino
type: Population
allele count: 7
allele frequency: 1.206896551724138e-1
allele num: 58
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 447
allele frequency: 2.745700245700246e-1
allele num: 1628
num of homozygotes: 59

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 1.805555555555556e-1
allele num: 72
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

MQ
type: SiteQuality
SIO_000300: 4.783e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 6.4523e4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 544
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 2.520161290322581e-4
allele num: 3968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.11e0

DP
type: SiteQuality
SIO_000300: 6.2611e4

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 4.468e1

QD
type: SiteQuality
SIO_000300: 1.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 5.509641873278237e-3
allele num: 1452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

MQ
type: SiteQuality
SIO_000300: 4.559e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 6.2369e4

GenotypeQuality
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 1

GenotypeQuality
all individuals: 283
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 7.618080243778568e-4
allele num: 3938
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.955e1

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.635e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

DP
type: SiteQuality
SIO_000300: 6.2451e4

MQ
type: SiteQuality
SIO_000300: 5.128e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.536783358701167e-4
allele num: 3942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

DP
type: SiteQuality
SIO_000300: 6.1584e4

VQSLOD
type: SiteQuality
SIO_000300: -1.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 5.03e0

MQ
type: SiteQuality
SIO_000300: 4.913e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
all individuals: 22
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variant carriers: 6

GenotypeQuality
all individuals: 9
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variant carriers: 8

GenotypeQuality
all individuals: 101
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variant carriers: 99

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 14
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variant carriers: 7

GenotypeQuality
all individuals: 70
bin: 6.25e1
variant carriers: 8

Latino
type: Population
allele count: 2
allele frequency: 3.571428571428571e-2
allele num: 56
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-2
allele num: 60
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 1.098901098901099e-2
allele num: 1274
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

South Asian
type: Population
allele count: 90
allele frequency: 2.482073910645339e-2
allele num: 3626
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 4.893e1

DP
type: SiteQuality
SIO_000300: 6.0927e4

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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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.785714285714286e-2
allele num: 56
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 60
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South Asian
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allele frequency: 2.757859900717044e-4
allele num: 3626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 114
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QD
type: SiteQuality
SIO_000300: 1.109e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 4.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

FS
type: SiteQuality
SIO_000300: 1.168e0

DP
type: SiteQuality
SIO_000300: 6.0927e4

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 54
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South Asian
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allele frequency: 0.0e0
allele num: 3654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 4.683e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.84e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 5.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 980
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South Asian
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allele frequency: 3.725782414307004e-4
allele num: 2684
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

DP
type: SiteQuality
SIO_000300: 6.2843e4

MQRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

QD
type: SiteQuality
SIO_000300: 4.41e0

MQ
type: SiteQuality
SIO_000300: 4.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.67e-2

FS
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 368
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European (Non-Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 4.809e1

FS
type: SiteQuality
SIO_000300: 1.9071e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.177e-1

DP
type: SiteQuality
SIO_000300: 6.6041e4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.106e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 6.6041e4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 1.9071e1

MQ
type: SiteQuality
SIO_000300: 4.809e1

QD
type: SiteQuality
SIO_000300: 2.106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.177e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 27

GenotypeQuality
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bin: 3.25e1
variant carriers: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 31
allele frequency: 8.423913043478261e-2
allele num: 368
num of homozygotes: 15

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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East Asian
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allele count: 2
allele frequency: 1.0e0
allele num: 2
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.0e-1
allele num: 4
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 1.6e-1
allele num: 100
num of homozygotes: 8

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.177e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 4.809e1

QD
type: SiteQuality
SIO_000300: 2.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 6.6041e4

FS
type: SiteQuality
SIO_000300: 1.9071e1

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.488964346349745e-4
allele num: 1178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.359e0

VQSLOD
type: SiteQuality
SIO_000300: -2.278e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

QD
type: SiteQuality
SIO_000300: 2.92e0

MQRankSum
type: SiteQuality
SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 6.449e4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
all individuals: 761
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 8.75e1
variant carriers: 17

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 29

GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 6540
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 19

GenotypeQuality
all individuals: 10
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variant carriers: 9

GenotypeQuality
all individuals: 277
bin: 9.75e1
variant carriers: 277

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.818181818181818e-2
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 5.357142857142857e-2
allele num: 56
num of homozygotes: 0

South Asian
type: Population
allele count: 190
allele frequency: 6.418918918918919e-2
allele num: 2960
num of homozygotes: 5

East Asian
type: Population
allele count: 1
allele frequency: 1.063829787234043e-2
allele num: 94
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 5.847457627118644e-2
allele num: 1180
num of homozygotes: 2

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 6.5868e4

QD
type: SiteQuality
SIO_000300: 1.462e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.31e-2

MQ
type: SiteQuality
SIO_000300: 5.036e1

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.9126559714795e-4
allele num: 1122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 5.028e1

VQSLOD
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 6.559e4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 198
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variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.923816852635629e-4
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16452
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.556896e6

FS
type: SiteQuality
SIO_000300: 2.023e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 116
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.816e1

QD
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SIO_000300: 7.37e0

DP
type: SiteQuality
SIO_000300: 2.55931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.624277456647399e-4
allele num: 8650
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Latino
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allele frequency: 1.729206294310911e-4
allele num: 11566
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 2.560416e6

ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.073e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.092485549132948e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 4.802e0

QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499640028797696e-5
allele num: 66672
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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African
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

DP
type: SiteQuality
SIO_000300: 2.563159e6

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

FS
type: SiteQuality
SIO_000300: 4.802e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4988
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4586
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.999010108888022e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.695e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.564509e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.494e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2770
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29046
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4475
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

DP
type: SiteQuality
SIO_000300: 2.568975e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 2.575e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29046
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.144e0

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.067e0

DP
type: SiteQuality
SIO_000300: 2.569111e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

FS
type: SiteQuality
SIO_000300: 1.1375e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4647
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7127
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

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