X-101091739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091739
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091739
    reference: chr 0
allele count: 1
allele frequency: 1.139757003806788e-5
allele num: 87738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*143G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+725G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1147G>A
  hgvsp: ENSP00000263032.1:p.Gly383Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1147G>A
  hgvsp: ENSP00000355286.2:p.Gly383Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*551G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+725G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.*15G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly383Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

X-101091741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091741
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091741
    reference: chr 0
allele count: 3
allele frequency: 3.419154101275345e-5
allele num: 87741
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+723G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1145G>A
  hgvsp: ENSP00000355286.2:p.Cys382Tyr
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*141G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*549G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+723G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1145G>A
  hgvsp: ENSP00000263032.1:p.Cys382Tyr
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys382Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

X-101091748-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091748
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091748
    reference: chr 0
allele count: 4
allele frequency: 4.558820177338105e-5
allele num: 87742
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*542C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1138C>G
  hgvsp: ENSP00000355286.2:p.Pro380Ala
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*134C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+716C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1138C>G
  hgvsp: ENSP00000263032.1:p.Pro380Ala
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.*6C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+716C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.*6C>G
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro380Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

X-101091749-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091749
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091749
    reference: chr 0
allele count: 1
allele frequency: 1.139718033758448e-5
allele num: 87741
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1137G>T
  hgvsp: ENSP00000263032.1:p.Leu379Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*541G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*133G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1137G>T
  hgvsp: ENSP00000355286.2:p.Leu379Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+715G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.*5G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+715G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu379Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

X-101091756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091756
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091756
    reference: chr 0
allele count: 32
allele frequency: 3.647097708027034e-4
allele num: 87741
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*126T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.916T>C
  hgvsp: ENSP00000354539.1:p.Ter306ArgextTer22
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1130T>C
  hgvsp: ENSP00000263032.1:p.Leu377Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1105T>C
  hgvsp: ENSP00000361889.1:p.Ter369ArgextTer22
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+708T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*534T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1130T>C
  hgvsp: ENSP00000355286.2:p.Leu377Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+708T>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ter306ArgextTer22
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

X-101091759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091759
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091759
    reference: chr 0
allele count: 1
allele frequency: 1.139731023478459e-5
allele num: 87740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*123T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1102T>C
  hgvsp: ENSP00000361889.1:p.Phe368Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.913T>C
  hgvsp: ENSP00000354539.1:p.Phe305Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1127T>C
  hgvsp: ENSP00000355286.2:p.Val376Ala
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*531T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1127T>C
  hgvsp: ENSP00000263032.1:p.Val376Ala
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+705T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+705T>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22262
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe305Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

X-101091761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091761
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091761
    reference: chr 0
allele count: 2
allele frequency: 2.279514007613577e-5
allele num: 87738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1125G>A
  hgvsp: ENST00000263032.1:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.911G>A
  hgvsp: ENSP00000354539.1:p.Gly304Glu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+703G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*529G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+703G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1125G>A
  hgvsp: ENST00000361708.2:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1100G>A
  hgvsp: ENSP00000361889.1:p.Gly367Glu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*121G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly304Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-101091785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091785
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091785
    reference: chr 0
allele count: 1
allele frequency: 1.14038088721633e-5
allele num: 87690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1101T>C
  hgvsp: ENST00000263032.1:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-7T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1101T>C
  hgvsp: ENST00000361708.2:c.1101T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-7T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-7T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+679T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*97T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+679T>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.75e1
  variant carriers: 0
hgvs: c.894-7T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

X-101091788-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091788
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091788
    reference: chr 0
allele count: 1
allele frequency: 1.140680073459797e-5
allele num: 87667
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*94G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1098G>C
  hgvsp: ENSP00000263032.1:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+676G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-10G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-10G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1098G>C
  hgvsp: ENSP00000355286.2:p.Leu366Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+676G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-10G>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu366Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum

X-101091791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091791
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091791
    reference: chr 0
allele count: 1
allele frequency: 1.14100545400607e-5
allele num: 87642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1095G>A
  hgvsp: ENST00000263032.1:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+673G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*91G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-13G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+673G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-13G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1095G>A
  hgvsp: ENST00000361708.2:c.1095G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-13G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu365Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

X-101091793-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091793
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091793
    reference: chr 0
allele count: 40
allele frequency: 4.564073892356317e-4
allele num: 87641
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1093T>C
  hgvsp: ENST00000361708.2:c.1093T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-15T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+671T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1093T>C
  hgvsp: ENST00000263032.1:c.1093T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-15T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+671T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*89T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-15T>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9836
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu365Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

X-101091804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091804
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091804
    reference: chr 0
allele count: 1
allele frequency: 1.142648201471731e-5
allele num: 87516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-26G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+660G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1083-1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-26G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+660G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*79-1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-26G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1083-1G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5540
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
hgvs: c.*79-1G>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-101091808-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091808
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091808
    reference: chr 0
allele count: 1
allele frequency: 1.143392904103637e-5
allele num: 87459
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-30C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*79-5C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1083-5C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1083-5C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-30C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-30C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+656C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+656C>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9790
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22244
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genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 6.75e1
  variant carriers: 0
hgvs: c.*79-5C>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

X-101091825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091825
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091825
    reference: chr 0
allele count: 1
allele frequency: 1.14740743290535e-5
allele num: 87153
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*79-22G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1083-22G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+639G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-47G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1083-22G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-47G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-47G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+639G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  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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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 depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

X-101091844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101091844
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101091844
    reference: chr 0
allele count: 4
allele frequency: 4.613876232770056e-5
allele num: 86695
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+620G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.894-66G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*512-66G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1083-41G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*79-41G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1083-41G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+620G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1083-66G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

X-101092404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092404
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092404
    reference: chr 0
allele count: 150
allele frequency: 1.709518599562363e-3
allele num: 87744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*44G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+60G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+60G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24810
  bin: 9.75e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52644
  bin: 9.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

X-101092406-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092406
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092406
    reference: chr 0
allele count: 3
allele frequency: 3.418920304967691e-5
allele num: 87747
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*42A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+58A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+58A>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24772
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-101092407-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092407
    reference: chr 0
allele count: 12
allele frequency: 1.367552536809956e-4
allele num: 87748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*41G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+57G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+57G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24771
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

X-101092412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092412
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092412
    reference: chr 0
allele count: 1
allele frequency: 1.139640101655897e-5
allele num: 87747
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*36G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+52G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+52G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

X-101092425-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092425
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092425
    reference: chr 0
allele count: 3
allele frequency: 3.418959268798577e-5
allele num: 87746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*23G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+39G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+39G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24771
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

X-101092425-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092425
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092425
    reference: chr 0
allele count: 18
allele frequency: 2.051375561279147e-4
allele num: 87746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*23G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+39G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+39G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24771
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-101092426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092426
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092426
    reference: chr 0
allele count: 3
allele frequency: 3.418881342024889e-5
allele num: 87748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*22C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+38C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+38C>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52628
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

X-101092427-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092427
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092427
    reference: chr 0
allele count: 1
allele frequency: 1.13960113960114e-5
allele num: 87750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+37G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+37G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-101092431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092431
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092431
    reference: chr 0
allele count: 1
allele frequency: 1.139614126656714e-5
allele num: 87749
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*17C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+33C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+33C>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24768
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

X-101092434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092434
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092434
    reference: chr 0
allele count: 1
allele frequency: 1.13960113960114e-5
allele num: 87750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+30C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+30C>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

X-101092453-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092453
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092453
    reference: chr 0
allele count: 2
allele frequency: 2.279124360420726e-5
allele num: 87753
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+11G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.904G>T
  hgvsp: ENSP00000331535.2:p.Gly302Cys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+11G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly302Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

X-101092453-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092453
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092453
    reference: chr 0
allele count: 3
allele frequency: 3.41868654063109e-5
allele num: 87753
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.904G>C
  hgvsp: ENSP00000331535.2:p.Gly302Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+11G>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+11G>C
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly302Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

X-101092460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092460
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092460
    reference: chr 0
allele count: 1
allele frequency: 1.139575166377974e-5
allele num: 87752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.897G>A
  hgvsp: ENSP00000331535.2:p.Trp299Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+4G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+4G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp299Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

X-101092463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092463
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092463
    reference: chr 0
allele count: 1
allele frequency: 1.139562180210363e-5
allele num: 87753
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1082+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1082+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.893+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.894G>A
  hgvsp: ENST00000332614.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1082+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1082+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1082+1G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*511+1G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1082+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

X-101092468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092468
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092468
    reference: chr 0
allele count: 1
allele frequency: 1.139588152841563e-5
allele num: 87751
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.889C>T
  hgvsp: ENSP00000354539.1:p.Gln297Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1078C>T
  hgvsp: ENSP00000442401.1:p.Gln360Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1078C>T
  hgvsp: ENSP00000426978.1:p.Gln360Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1078C>T
  hgvsp: ENSP00000361889.1:p.Gln360Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.889C>T
  hgvsp: ENSP00000331535.2:p.Gln297Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1078C>T
  hgvsp: ENSP00000355286.2:p.Gln360Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*507C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1078C>T
  hgvsp: ENSP00000263032.1:p.Gln360Ter
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52621
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln360Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

X-101092470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092470
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092470
    reference: chr 0
allele count: 1
allele frequency: 1.13960113960114e-5
allele num: 87750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*505G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1076G>A
  hgvsp: ENSP00000361889.1:p.Ser359Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1076G>A
  hgvsp: ENSP00000442401.1:p.Ser359Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.887G>A
  hgvsp: ENSP00000354539.1:p.Ser296Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1076G>A
  hgvsp: ENSP00000355286.2:p.Ser359Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1076G>A
  hgvsp: ENSP00000426978.1:p.Ser359Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.887G>A
  hgvsp: ENSP00000331535.2:p.Ser296Asn
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1076G>A
  hgvsp: ENSP00000263032.1:p.Ser359Asn
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52621
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser359Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

X-101092476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092476
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092476
    reference: chr 0
allele count: 2
allele frequency: 2.279202279202279e-5
allele num: 87750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.881C>T
  hgvsp: ENSP00000354539.1:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.881C>T
  hgvsp: ENSP00000331535.2:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1070C>T
  hgvsp: ENSP00000263032.1:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1070C>T
  hgvsp: ENSP00000442401.1:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*499C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1070C>T
  hgvsp: ENSP00000361889.1:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1070C>T
  hgvsp: ENSP00000426978.1:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1070C>T
  hgvsp: ENSP00000355286.2:p.Pro357Leu
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro357Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-101092478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092478
    reference: chr 0
allele count: 1
allele frequency: 1.139653089599526e-5
allele num: 87746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.879C>T
  hgvsp: ENST00000332614.2:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1068C>T
  hgvsp: ENST00000263032.1:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.879C>T
  hgvsp: ENST00000361330.1:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1068C>T
  hgvsp: ENST00000361708.2:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1068C>T
  hgvsp: ENST00000537026.1:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1068C>T
  hgvsp: ENST00000372803.1:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1068C>T
  hgvsp: ENST00000473265.2:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly356Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS

X-101092479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092479
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092479
    reference: chr 0
allele count: 1
allele frequency: 1.139614126656714e-5
allele num: 87749
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1067G>T
  hgvsp: ENSP00000263032.1:p.Gly356Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1067G>T
  hgvsp: ENSP00000426978.1:p.Gly356Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1067G>T
  hgvsp: ENSP00000361889.1:p.Gly356Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.878G>T
  hgvsp: ENSP00000331535.2:p.Gly293Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.878G>T
  hgvsp: ENSP00000354539.1:p.Gly293Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1067G>T
  hgvsp: ENSP00000442401.1:p.Gly356Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1067G>T
  hgvsp: ENSP00000355286.2:p.Gly356Val
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*496G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24764
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly356Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

X-101092483-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092483
    reference: chr 0
allele count: 1
allele frequency: 1.139640101655897e-5
allele num: 87747
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1063G>T
  hgvsp: ENSP00000442401.1:p.Ala355Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1063G>T
  hgvsp: ENSP00000355286.2:p.Ala355Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1063G>T
  hgvsp: ENSP00000361889.1:p.Ala355Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1063G>T
  hgvsp: ENSP00000426978.1:p.Ala355Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.874G>T
  hgvsp: ENSP00000331535.2:p.Ala292Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1063G>T
  hgvsp: ENSP00000263032.1:p.Ala355Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.874G>T
  hgvsp: ENSP00000354539.1:p.Ala292Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*492G>T
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala355Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

X-101092486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092486
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092486
    reference: chr 0
allele count: 532
allele frequency: 6.062747153813719e-3
allele num: 87749
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1060C>T
  hgvsp: ENSP00000361889.1:p.Arg354Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1060C>T
  hgvsp: ENSP00000263032.1:p.Arg354Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.871C>T
  hgvsp: ENSP00000331535.2:p.Arg291Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1060C>T
  hgvsp: ENSP00000442401.1:p.Arg354Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1060C>T
  hgvsp: ENSP00000426978.1:p.Arg354Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*489C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1060C>T
  hgvsp: ENSP00000355286.2:p.Arg354Trp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.871C>T
  hgvsp: ENSP00000354539.1:p.Arg291Trp
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24791
  bin: 9.75e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52623
  bin: 9.75e1
  variant carriers: 520
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg354Trp
num of homozygotes: 11
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

X-101092490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092490
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092490
    reference: chr 0
allele count: 31
allele frequency: 3.532884315133281e-4
allele num: 87747
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.867C>T
  hgvsp: ENST00000332614.2:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1056C>T
  hgvsp: ENST00000372803.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1056C>T
  hgvsp: ENST00000537026.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*485C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1056C>T
  hgvsp: ENST00000263032.1:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.867C>T
  hgvsp: ENST00000361330.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1056C>T
  hgvsp: ENST00000473265.2:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1056C>T
  hgvsp: ENST00000361708.2:c.1056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24624
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu352Leu
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-101092497-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092497
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092497
    reference: chr 0
allele count: 2
allele frequency: 2.279254228016593e-5
allele num: 87748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1049G>T
  hgvsp: ENSP00000426978.1:p.Cys350Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*478G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1049G>T
  hgvsp: ENSP00000263032.1:p.Cys350Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1049G>T
  hgvsp: ENSP00000442401.1:p.Cys350Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1049G>T
  hgvsp: ENSP00000361889.1:p.Cys350Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1049G>T
  hgvsp: ENSP00000355286.2:p.Cys350Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.860G>T
  hgvsp: ENSP00000331535.2:p.Cys287Phe
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.860G>T
  hgvsp: ENSP00000354539.1:p.Cys287Phe
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24616
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys350Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS

X-101092503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092503
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092503
    reference: chr 0
allele count: 1
allele frequency: 1.13960113960114e-5
allele num: 87750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1043A>G
  hgvsp: ENSP00000426978.1:p.Asn348Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*472A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1043A>G
  hgvsp: ENSP00000442401.1:p.Asn348Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.854A>G
  hgvsp: ENSP00000331535.2:p.Asn285Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.854A>G
  hgvsp: ENSP00000354539.1:p.Asn285Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1043A>G
  hgvsp: ENSP00000361889.1:p.Asn348Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1043A>G
  hgvsp: ENSP00000263032.1:p.Asn348Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1043A>G
  hgvsp: ENSP00000355286.2:p.Asn348Ser
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn348Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-101092505-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092505
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092505
    reference: chr 0
allele count: 2
allele frequency: 2.279202279202279e-5
allele num: 87750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1041G>T
  hgvsp: ENST00000361708.2:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1041G>T
  hgvsp: ENST00000473265.2:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*470G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.852G>T
  hgvsp: ENST00000361330.1:c.852G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1041G>T
  hgvsp: ENST00000537026.1:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1041G>T
  hgvsp: ENST00000372803.1:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.852G>T
  hgvsp: ENST00000332614.2:c.852G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1041G>T
  hgvsp: ENST00000263032.1:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24615
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val347Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

X-101092507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092507
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092507
    reference: chr 0
allele count: 4
allele frequency: 4.558352611366252e-5
allele num: 87751
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1039G>A
  hgvsp: ENSP00000355286.2:p.Val347Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1039G>A
  hgvsp: ENSP00000442401.1:p.Val347Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.850G>A
  hgvsp: ENSP00000354539.1:p.Val284Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1039G>A
  hgvsp: ENSP00000361889.1:p.Val347Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1039G>A
  hgvsp: ENSP00000426978.1:p.Val347Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1039G>A
  hgvsp: ENSP00000263032.1:p.Val347Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.850G>A
  hgvsp: ENSP00000331535.2:p.Val284Met
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24615
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val347Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

X-101092508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092508
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092508
    reference: chr 0
allele count: 85
allele frequency: 9.686609686609687e-4
allele num: 87750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1038C>T
  hgvsp: ENST00000361708.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1038C>T
  hgvsp: ENST00000263032.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1038C>T
  hgvsp: ENST00000372803.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1038C>T
  hgvsp: ENST00000537026.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.849C>T
  hgvsp: ENST00000361330.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.849C>T
  hgvsp: ENST00000332614.2:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1038C>T
  hgvsp: ENST00000473265.2:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr346Thr
num of homozygotes: 2
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-101092511-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092511
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092511
    reference: chr 0
allele count: 4
allele frequency: 4.558300665511897e-5
allele num: 87752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1035G>T
  hgvsp: ENSP00000361889.1:p.Gln345His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1035G>T
  hgvsp: ENSP00000442401.1:p.Gln345His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.846G>T
  hgvsp: ENSP00000354539.1:p.Gln282His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1035G>T
  hgvsp: ENSP00000355286.2:p.Gln345His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*464G>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.846G>T
  hgvsp: ENSP00000331535.2:p.Gln282His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1035G>T
  hgvsp: ENSP00000426978.1:p.Gln345His
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1035G>T
  hgvsp: ENSP00000263032.1:p.Gln345His
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24593
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln345His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

X-101092519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092519
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092519
    reference: chr 0
allele count: 2
allele frequency: 2.279150332755949e-5
allele num: 87752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.838T>C
  hgvsp: ENSP00000354539.1:p.Trp280Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*456T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.838T>C
  hgvsp: ENSP00000331535.2:p.Trp280Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1027T>C
  hgvsp: ENSP00000355286.2:p.Trp343Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1027T>C
  hgvsp: ENSP00000263032.1:p.Trp343Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1027T>C
  hgvsp: ENSP00000442401.1:p.Trp343Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1027T>C
  hgvsp: ENSP00000426978.1:p.Trp343Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1027T>C
  hgvsp: ENSP00000361889.1:p.Trp343Arg
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24593
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Trp343Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-101092524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092524
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092524
    reference: chr 0
allele count: 16
allele frequency: 1.823341044546501e-4
allele num: 87751
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1022A>G
  hgvsp: ENSP00000442401.1:p.Asp341Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.833A>G
  hgvsp: ENSP00000331535.2:p.Asp278Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1022A>G
  hgvsp: ENSP00000426978.1:p.Asp341Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1022A>G
  hgvsp: ENSP00000361889.1:p.Asp341Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1022A>G
  hgvsp: ENSP00000263032.1:p.Asp341Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.833A>G
  hgvsp: ENSP00000354539.1:p.Asp278Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1022A>G
  hgvsp: ENSP00000355286.2:p.Asp341Gly
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*451A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24593
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp341Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

X-101092530-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092530
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092530
    reference: chr 0
allele count: 1
allele frequency: 1.139588152841563e-5
allele num: 87751
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1016T>C
  hgvsp: ENSP00000361889.1:p.Leu339Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1016T>C
  hgvsp: ENSP00000355286.2:p.Leu339Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1016T>C
  hgvsp: ENSP00000442401.1:p.Leu339Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.827T>C
  hgvsp: ENSP00000354539.1:p.Leu276Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*445T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1016T>C
  hgvsp: ENSP00000426978.1:p.Leu339Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.827T>C
  hgvsp: ENSP00000331535.2:p.Leu276Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1016T>C
  hgvsp: ENSP00000263032.1:p.Leu339Pro
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24590
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu339Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

X-101092534-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092534
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092534
    reference: chr 0
allele count: 1
allele frequency: 1.139588152841563e-5
allele num: 87751
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.823A>C
  hgvsp: ENSP00000331535.2:p.Ile275Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.1012A>C
  hgvsp: ENSP00000426978.1:p.Ile338Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.1012A>C
  hgvsp: ENSP00000442401.1:p.Ile338Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*441A>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.823A>C
  hgvsp: ENSP00000354539.1:p.Ile275Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.1012A>C
  hgvsp: ENSP00000263032.1:p.Ile338Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.1012A>C
  hgvsp: ENSP00000361889.1:p.Ile338Leu
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.1012A>C
  hgvsp: ENSP00000355286.2:p.Ile338Leu
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile338Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-101092547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092547
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092547
    reference: chr 0
allele count: 1
allele frequency: 1.139653089599526e-5
allele num: 87746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.810T>C
  hgvsp: ENST00000361330.1:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.999T>C
  hgvsp: ENST00000473265.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.810T>C
  hgvsp: ENST00000332614.2:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*428T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.999T>C
  hgvsp: ENST00000263032.1:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.999T>C
  hgvsp: ENST00000361708.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.999T>C
  hgvsp: ENST00000372803.1:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.999T>C
  hgvsp: ENST00000537026.1:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24589
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His333His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

X-101092548-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092548
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092548
    reference: chr 0
allele count: 3
allele frequency: 3.419037199124726e-5
allele num: 87744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.998A>G
  hgvsp: ENSP00000355286.2:p.His333Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.998A>G
  hgvsp: ENSP00000442401.1:p.His333Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.809A>G
  hgvsp: ENSP00000331535.2:p.His270Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.998A>G
  hgvsp: ENSP00000361889.1:p.His333Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.998A>G
  hgvsp: ENSP00000426978.1:p.His333Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.998A>G
  hgvsp: ENSP00000263032.1:p.His333Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.809A>G
  hgvsp: ENSP00000354539.1:p.His270Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*427A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24591
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52559
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His333Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

X-101092553-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092553
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092553
    reference: chr 0
allele count: 2
allele frequency: 2.279591953040406e-5
allele num: 87735
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.993T>A
  hgvsp: ENST00000372803.1:c.993T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.804T>A
  hgvsp: ENST00000332614.2:c.804T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.993T>A
  hgvsp: ENST00000361708.2:c.993T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.993T>A
  hgvsp: ENST00000263032.1:c.993T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.993T>A
  hgvsp: ENST00000537026.1:c.993T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.804T>A
  hgvsp: ENST00000361330.1:c.804T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*422T>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.993T>A
  hgvsp: ENST00000473265.2:c.993T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24589
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52557
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr331Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

X-101092555-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092555
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092555
    reference: chr 0
allele count: 1
allele frequency: 1.139899916787306e-5
allele num: 87727
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.991A>T
  hgvsp: ENSP00000361889.1:p.Thr331Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.991A>T
  hgvsp: ENSP00000263032.1:p.Thr331Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.802A>T
  hgvsp: ENSP00000331535.2:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.802A>T
  hgvsp: ENSP00000354539.1:p.Thr268Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.991A>T
  hgvsp: ENSP00000426978.1:p.Thr331Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.991A>T
  hgvsp: ENSP00000442401.1:p.Thr331Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.991A>T
  hgvsp: ENSP00000355286.2:p.Thr331Ser
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*420A>T
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr331Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

X-101092556-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092556
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092556
    reference: chr 0
allele count: 1
allele frequency: 1.139899916787306e-5
allele num: 87727
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.990A>T
  hgvsp: ENSP00000355286.2:p.Glu330Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*419A>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.801A>T
  hgvsp: ENSP00000331535.2:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.990A>T
  hgvsp: ENSP00000263032.1:p.Glu330Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.990A>T
  hgvsp: ENSP00000442401.1:p.Glu330Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.990A>T
  hgvsp: ENSP00000361889.1:p.Glu330Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.990A>T
  hgvsp: ENSP00000426978.1:p.Glu330Asp
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.801A>T
  hgvsp: ENSP00000354539.1:p.Glu267Asp
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu330Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-101092565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092565
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092565
    reference: chr 0
allele count: 4
allele frequency: 4.56188770913404e-5
allele num: 87683
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.792A>G
  hgvsp: ENST00000332614.2:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.792A>G
  hgvsp: ENST00000361330.1:c.792A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.981A>G
  hgvsp: ENST00000473265.2:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.981A>G
  hgvsp: ENST00000372803.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.981A>G
  hgvsp: ENST00000537026.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.981A>G
  hgvsp: ENST00000361708.2:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.981A>G
  hgvsp: ENST00000263032.1:c.981A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*410A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52555
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala327Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

X-101092568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092568
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092568
    reference: chr 0
allele count: 1
allele frequency: 1.140693085118518e-5
allele num: 87666
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.978T>C
  hgvsp: ENST00000537026.1:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.978T>C
  hgvsp: ENST00000263032.1:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.789T>C
  hgvsp: ENST00000361330.1:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.978T>C
  hgvsp: ENST00000361708.2:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.978T>C
  hgvsp: ENST00000372803.1:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.789T>C
  hgvsp: ENST00000332614.2:c.789T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.978T>C
  hgvsp: ENST00000473265.2:c.978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*407T>C
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser326Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

X-101092568-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092568
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092568
    reference: chr 0
allele count: 1
allele frequency: 1.140693085118518e-5
allele num: 87666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.978T>A
  hgvsp: ENSP00000426978.1:p.Ser326Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.978T>A
  hgvsp: ENSP00000263032.1:p.Ser326Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*407T>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.978T>A
  hgvsp: ENSP00000355286.2:p.Ser326Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.789T>A
  hgvsp: ENSP00000354539.1:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.978T>A
  hgvsp: ENSP00000442401.1:p.Ser326Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.978T>A
  hgvsp: ENSP00000361889.1:p.Ser326Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.789T>A
  hgvsp: ENSP00000331535.2:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24587
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser326Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-101092582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092582
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092582
    reference: chr 0
allele count: 1
allele frequency: 1.144754164043272e-5
allele num: 87355
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.775G>A
  hgvsp: ENSP00000354539.1:p.Val259Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*393G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.964G>A
  hgvsp: ENSP00000263032.1:p.Val322Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.775G>A
  hgvsp: ENSP00000331535.2:p.Val259Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.964G>A
  hgvsp: ENSP00000361889.1:p.Val322Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.964G>A
  hgvsp: ENSP00000355286.2:p.Val322Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.964G>A
  hgvsp: ENSP00000442401.1:p.Val322Met
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.964G>A
  hgvsp: ENSP00000426978.1:p.Val322Met
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val322Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

X-101092583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092583
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092583
    reference: chr 0
allele count: 4
allele frequency: 4.579436042451372e-5
allele num: 87347
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.774C>T
  hgvsp: ENST00000332614.2:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.963C>T
  hgvsp: ENST00000537026.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*392C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.963C>T
  hgvsp: ENST00000361708.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.963C>T
  hgvsp: ENST00000372803.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.963C>T
  hgvsp: ENST00000473265.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.963C>T
  hgvsp: ENST00000263032.1:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.774C>T
  hgvsp: ENST00000361330.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24586
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52549
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn321Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

X-101092583-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092583
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092583
    reference: chr 0
allele count: 1
allele frequency: 1.144859010612843e-5
allele num: 87347
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.963C>G
  hgvsp: ENSP00000263032.1:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.963C>G
  hgvsp: ENSP00000426978.1:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*392C>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.963C>G
  hgvsp: ENSP00000442401.1:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.774C>G
  hgvsp: ENSP00000354539.1:p.Asn258Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.774C>G
  hgvsp: ENSP00000331535.2:p.Asn258Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.963C>G
  hgvsp: ENSP00000361889.1:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.963C>G
  hgvsp: ENSP00000355286.2:p.Asn321Lys
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24586
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn321Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

X-101092587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092587
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092587
    reference: chr 0
allele count: 31
allele frequency: 3.552519997249662e-4
allele num: 87262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.959G>A
  hgvsp: ENSP00000426978.1:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.959G>A
  hgvsp: ENSP00000263032.1:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.959G>A
  hgvsp: ENSP00000355286.2:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*388G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.770G>A
  hgvsp: ENSP00000331535.2:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.959G>A
  hgvsp: ENSP00000442401.1:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.770G>A
  hgvsp: ENSP00000354539.1:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.959G>A
  hgvsp: ENSP00000361889.1:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24588
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg320Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-101092588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092588
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092588
    reference: chr 0
allele count: 98
allele frequency: 1.123415182153747e-3
allele num: 87234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*387C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.958C>T
  hgvsp: ENSP00000355286.2:p.Arg320Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.958C>T
  hgvsp: ENSP00000426978.1:p.Arg320Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.769C>T
  hgvsp: ENSP00000331535.2:p.Arg257Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.958C>T
  hgvsp: ENSP00000442401.1:p.Arg320Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.958C>T
  hgvsp: ENSP00000361889.1:p.Arg320Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.769C>T
  hgvsp: ENSP00000354539.1:p.Arg257Ter
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.958C>T
  hgvsp: ENSP00000263032.1:p.Arg320Ter
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24582
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 1
hgvs: p.Arg320Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

X-101092596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092596
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092596
    reference: chr 0
allele count: 1
allele frequency: 1.14957063536769e-5
allele num: 86989
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.950A>G
  hgvsp: ENSP00000361889.1:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.950A>G
  hgvsp: ENSP00000442401.1:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.950A>G
  hgvsp: ENSP00000355286.2:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.950A>G
  hgvsp: ENSP00000263032.1:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.761A>G
  hgvsp: ENSP00000354539.1:p.Lys254Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.950A>G
  hgvsp: ENSP00000426978.1:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.761A>G
  hgvsp: ENSP00000331535.2:p.Lys254Arg
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*379A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24567
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys317Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

X-101092597-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092597
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092597
    reference: chr 0
allele count: 11
allele frequency: 1.264513162432464e-4
allele num: 86990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.760A>C
  hgvsp: ENSP00000354539.1:p.Lys254Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.949A>C
  hgvsp: ENSP00000361889.1:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.949A>C
  hgvsp: ENSP00000263032.1:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.949A>C
  hgvsp: ENSP00000426978.1:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*378A>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.949A>C
  hgvsp: ENSP00000442401.1:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.949A>C
  hgvsp: ENSP00000355286.2:p.Lys317Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.760A>C
  hgvsp: ENSP00000331535.2:p.Lys254Gln
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24566
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys317Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

X-101092599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092599
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092599
    reference: chr 0
allele count: 4
allele frequency: 4.60267415368329e-5
allele num: 86906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.947C>T
  hgvsp: ENSP00000442401.1:p.Thr316Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.758C>T
  hgvsp: ENSP00000331535.2:p.Thr253Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*376C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.758C>T
  hgvsp: ENSP00000354539.1:p.Thr253Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.947C>T
  hgvsp: ENSP00000426978.1:p.Thr316Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.947C>T
  hgvsp: ENSP00000355286.2:p.Thr316Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.947C>T
  hgvsp: ENSP00000263032.1:p.Thr316Ile
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.947C>T
  hgvsp: ENSP00000361889.1:p.Thr316Ile
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr316Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

X-101092601-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092601
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092601
    reference: chr 0
allele count: 1
allele frequency: 1.151118887558707e-5
allele num: 86872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.945C>A
  hgvsp: ENSP00000361889.1:p.His315Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.945C>A
  hgvsp: ENSP00000442401.1:p.His315Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.756C>A
  hgvsp: ENSP00000331535.2:p.His252Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.945C>A
  hgvsp: ENSP00000263032.1:p.His315Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.756C>A
  hgvsp: ENSP00000354539.1:p.His252Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.945C>A
  hgvsp: ENSP00000426978.1:p.His315Gln
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*374C>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.945C>A
  hgvsp: ENSP00000355286.2:p.His315Gln
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His315Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

X-101092604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092604
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092604
    reference: chr 0
allele count: 1
allele frequency: 1.15350897429982e-5
allele num: 86692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.942G>A
  hgvsp: ENST00000473265.2:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.942G>A
  hgvsp: ENST00000361708.2:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.753G>A
  hgvsp: ENST00000332614.2:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.753G>A
  hgvsp: ENST00000361330.1:c.753G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.942G>A
  hgvsp: ENST00000372803.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.942G>A
  hgvsp: ENST00000537026.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*371G>A
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.942G>A
  hgvsp: ENST00000263032.1:c.942G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52537
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys314Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

X-101092607-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092607
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092607
    reference: chr 0
allele count: 5
allele frequency: 5.768875761491601e-5
allele num: 86672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.750A>G
  hgvsp: ENST00000361330.1:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.939A>G
  hgvsp: ENST00000263032.1:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.939A>G
  hgvsp: ENST00000473265.2:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.750A>G
  hgvsp: ENST00000332614.2:c.750A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.939A>G
  hgvsp: ENST00000537026.1:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.939A>G
  hgvsp: ENST00000372803.1:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.939A>G
  hgvsp: ENST00000361708.2:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*368A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu313Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

X-101092608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092608
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092608
    reference: chr 0
allele count: 2
allele frequency: 2.307896467764456e-5
allele num: 86659
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.938T>C
  hgvsp: ENSP00000442401.1:p.Leu313Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.749T>C
  hgvsp: ENSP00000331535.2:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.938T>C
  hgvsp: ENSP00000263032.1:p.Leu313Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*367T>C
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.938T>C
  hgvsp: ENSP00000426978.1:p.Leu313Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.749T>C
  hgvsp: ENSP00000354539.1:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.938T>C
  hgvsp: ENSP00000361889.1:p.Leu313Pro
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.938T>C
  hgvsp: ENSP00000355286.2:p.Leu313Pro
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52537
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu313Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-101092617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092617
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092617
    reference: chr 0
allele count: 6
allele frequency: 6.953538771773268e-5
allele num: 86287
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.740G>A
  hgvsp: ENSP00000331535.2:p.Arg247Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.929G>A
  hgvsp: ENSP00000442401.1:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.929G>A
  hgvsp: ENSP00000361889.1:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.929G>A
  hgvsp: ENSP00000263032.1:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.929G>A
  hgvsp: ENSP00000426978.1:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.740G>A
  hgvsp: ENSP00000354539.1:p.Arg247Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.929G>A
  hgvsp: ENSP00000355286.2:p.Arg310Lys
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*358G>A
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg310Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

X-101092625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092625
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092625
    reference: chr 0
allele count: 1
allele frequency: 1.16144018583043e-5
allele num: 86100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.921C>T
  hgvsp: ENST00000361708.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.921C>T
  hgvsp: ENST00000537026.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.732C>T
  hgvsp: ENST00000361330.1:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.921C>T
  hgvsp: ENST00000263032.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.921C>T
  hgvsp: ENST00000473265.2:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.921C>T
  hgvsp: ENST00000372803.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.732C>T
  hgvsp: ENST00000332614.2:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: c.921C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-101092630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092630
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092630
    reference: chr 0
allele count: 1
allele frequency: 1.163007071082992e-5
allele num: 85984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.920-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.920-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.731-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.920-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.920-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.731-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.920-4A>G
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*349-4A>G
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24562
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: c.920-4A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-101092632-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24101092632
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24101092629
    reference: chr 0
allele count: 1
allele frequency: 1.165582674779122e-5
allele num: 85794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000355286
  ensembl transcript: ENST00000361708
  gene symbol: NXF5
  hgvsc: ENST00000361708.2:c.920-9_920-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000442401
  ensembl transcript: ENST00000537026
  gene symbol: NXF5
  hgvsc: ENST00000537026.1:c.920-9_920-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000422976
  ensembl transcript: ENST00000493509
  gene symbol: NXF5
  hgvsc: ENST00000493509.1:c.*349-9_*349-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000354539
  ensembl transcript: ENST00000361330
  gene symbol: NXF5
  hgvsc: ENST00000361330.1:c.731-9_731-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000263032
  ensembl transcript: ENST00000263032
  gene symbol: NXF5
  hgvsc: ENST00000263032.1:c.920-9_920-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000426978
  ensembl transcript: ENST00000473265
  gene symbol: NXF5
  hgvsc: ENST00000473265.2:c.920-9_920-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000361889
  ensembl transcript: ENST00000372803
  gene symbol: NXF5
  hgvsc: ENST00000372803.1:c.920-9_920-7delTCT
  variant of: http://identifiers.org/hgnc/8075
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126952
  ensembl protein: ENSP00000331535
  ensembl transcript: ENST00000332614
  gene symbol: NXF5
  hgvsc: ENST00000332614.2:c.731-9_731-7delTCT
  variant of: http://identifiers.org/hgnc/8075
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24562
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
hgvs: c.920-9_920-7delTCT
num of homozygotes: 0
reference allele: GAGA

GenotypeQuality
all individuals: 3270
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6539
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2670
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10117
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.34e1

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.792e0

FS
type: SiteQuality
SIO_000300: 3.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 2.786655e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.33e-2

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22285
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 3
allele frequency: 2.965305920727488e-4
allele num: 10117
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47985
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.606e0

VQSLOD
type: SiteQuality
SIO_000300: 7.76e0

DP
type: SiteQuality
SIO_000300: 2.786942e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.781e-1

GenotypeQuality
all individuals: 6540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22284
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3272
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.335938314056477e-5
allele num: 47985
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10117
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

DP
type: SiteQuality
SIO_000300: 2.786867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

QD
type: SiteQuality
SIO_000300: 1.046e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 2668
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2391
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
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South Asian
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allele frequency: 9.884353069091628e-5
allele num: 10117
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47984
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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SIO_000300: -2.77e0

InbreedingCoeff
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SIO_000300: 0.0e0

DP
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ClippingRankSum
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FS
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8515
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East Asian
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allele frequency: 4.820729135281711e-3
allele num: 6638
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.084028009336445e-5
allele num: 47984
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

South Asian
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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MQRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: -3.23e-1

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

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

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

African
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allele frequency: 0.0e0
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Other
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South Asian
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allele num: 10080
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MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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FS
type: SiteQuality
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 6636
num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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VQSLOD
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BaseQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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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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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47905
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.367e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 1.076e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

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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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.176470588235294e-4
allele num: 8500
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47779
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 9300
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DP
type: SiteQuality
SIO_000300: 2.725705e6

InbreedingCoeff
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.984e0

BaseQRankSum
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SIO_000300: -7.04e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

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

South Asian
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allele frequency: 1.039284971939306e-4
allele num: 9622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.304640215198387e-5
allele num: 47584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9281
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8487
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.665e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.801e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
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allele count: 140
allele frequency: 1.643964302489432e-2
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.041862015794628e-4
allele num: 47991
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.362505362505362e-4
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

MQ
type: SiteQuality
SIO_000300: 5.076e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.866e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 5.672537e6

QD
type: SiteQuality
SIO_000300: 1.53e1

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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.522780648191639e-4
allele num: 8516
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.003e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

DP
type: SiteQuality
SIO_000300: 5.661982e6

VQSLOD
type: SiteQuality
SIO_000300: 1.415e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.175e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.729e1

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: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.186239620403322e-3
allele num: 10116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47991
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.76e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.025e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.083724031589256e-5
allele num: 47991
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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South Asian
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allele num: 10115
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FS
type: SiteQuality
SIO_000300: 3.573e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
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allele num: 633
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
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Latino
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num of homozygotes: 0

East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 6.251302354657221e-5
allele num: 47990
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
type: SiteQuality
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InbreedingCoeff
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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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
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allele frequency: 2.145002145002145e-4
allele num: 9324
num of homozygotes: 0

Other
type: Population
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African
type: Population
allele count: 13
allele frequency: 1.526538280883044e-3
allele num: 8516
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South Asian
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allele frequency: 9.886307464162135e-5
allele num: 10115
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European (Non-Finnish)
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allele frequency: 4.167534903104813e-5
allele num: 47990
num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.25e1
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GenotypeQuality
all individuals: 1173
bin: 6.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47991
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.965599051008304e-4
allele num: 10116
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.669e-1

MQ
type: SiteQuality
SIO_000300: 4.91e1

DP
type: SiteQuality
SIO_000300: 5.661076e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.083724031589256e-5
allele num: 47991
num of homozygotes: 0

VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.672e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47991
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.884353069091628e-5
allele num: 10117
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.091e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.59e0

InbreedingCoeff
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DP
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SIO_000300: 5.660962e6

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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.083680613435573e-5
allele num: 47992
num of homozygotes: 0

East Asian
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 4.704e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.094e-1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.275e1

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: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.167534903104813e-5
allele num: 47990
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 4.603e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.660809e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.743e-1

QD
type: SiteQuality
SIO_000300: 2.061e1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.522780648191639e-4
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47990
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

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

African
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allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 47990
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.08385429690756e-5
allele num: 47988
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Latino
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South Asian
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
type: SiteQuality
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FS
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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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bin: 5.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.880446596186147e-5
allele num: 10121
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.652e1

VQSLOD
type: SiteQuality
SIO_000300: 9.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.660417e6

QD
type: SiteQuality
SIO_000300: 2.717e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.055e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.167795444599579e-5
allele num: 47987
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.168e0

MQ
type: SiteQuality
SIO_000300: 5.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 2.108e1

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.014e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.082e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

DP
type: SiteQuality
SIO_000300: 5.660418e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08389772229979e-5
allele num: 47987
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.556e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.660324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47988
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.476e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.736e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.260000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 5.660275e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4402
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GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.08389772229979e-5
allele num: 47987
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 5.660216e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: -2.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.292335264452132e-4
allele num: 47986
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.739336492890996e-3
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 34
allele frequency: 3.646503646503646e-3
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 477
allele frequency: 5.601221230624706e-2
allele num: 8516
num of homozygotes: 11

South Asian
type: Population
allele count: 5
allele frequency: 4.939735230191662e-4
allele num: 10122
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.01295570955107e-4
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.752e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQ
type: SiteQuality
SIO_000300: 5.209e1

VQSLOD
type: SiteQuality
SIO_000300: 2.508e1

QD
type: SiteQuality
SIO_000300: 1.719e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 5.670544e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.184e-1

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 30

GenotypeQuality
all individuals: 36
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 6.622516556291391e-4
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 5.626406601650412e-4
allele num: 47988
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 2.012e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.603e1

MQ
type: SiteQuality
SIO_000300: 5.667e1

DP
type: SiteQuality
SIO_000300: 5.619478e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.206e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.976089319237229e-4
allele num: 10121
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.08e0

DP
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.789e1

VQSLOD
type: SiteQuality
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FS
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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GenotypeQuality
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 395
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.176e0

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

MQRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 2.487e0

DP
type: SiteQuality
SIO_000300: 5.617176e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.496e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.623e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 52573
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.16770859381512e-5
allele num: 47988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.741e1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

DP
type: SiteQuality
SIO_000300: 5.617128e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.068e-1

QD
type: SiteQuality
SIO_000300: 2.024e1

FS
type: SiteQuality
SIO_000300: 1.2518e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 52573
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 453
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47989
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.963841138114997e-4
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.016e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 5.617142e6

QD
type: SiteQuality
SIO_000300: 1.317e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52570
bin: 9.75e1
variant carriers: 83

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 4.29000429000429e-4
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 79
allele frequency: 9.276655706904649e-3
allele num: 8516
num of homozygotes: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.167795444599579e-5
allele num: 47987
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.529999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

QD
type: SiteQuality
SIO_000300: 1.732e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.281e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.709e1

DP
type: SiteQuality
SIO_000300: 5.617915e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
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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: 464
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GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.335243493300547e-5
allele num: 47989
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.676e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.987e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

FS
type: SiteQuality
SIO_000300: 1.795e0

DP
type: SiteQuality
SIO_000300: 5.611667e6

QD
type: SiteQuality
SIO_000300: 1.632e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.433e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47989
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.01340967304505e-4
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 6.278e0

MQ
type: SiteQuality
SIO_000300: 5.699e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.276e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 5.611415e6

QD
type: SiteQuality
SIO_000300: 1.859e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.145002145002145e-4
allele num: 9324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.917396015670584e-4
allele num: 47988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.723e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.203e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.529999999999999e0

DP
type: SiteQuality
SIO_000300: 5.611489e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506704836522525e-4
allele num: 6637
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.322e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 455
bin: 8.25e1
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GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083810873325137e-5
allele num: 47989
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.696e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
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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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47987
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.072501072501073e-4
allele num: 9324
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

MQ
type: SiteQuality
SIO_000300: 5.618e1

QD
type: SiteQuality
SIO_000300: 3.377e1

DP
type: SiteQuality
SIO_000300: 5.610464e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.451e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

African
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allele count: 3
allele frequency: 3.522780648191639e-4
allele num: 8516
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10117
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQ
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MQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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SIO_000300: 1.727e0

VQSLOD
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SIO_000300: 6.29e-1

InbreedingCoeff
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SIO_000300: 1.858e-1

QD
type: SiteQuality
SIO_000300: 1.7e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47982
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East Asian
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allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.977848101265823e-4
allele num: 10112
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e0

MQ
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SIO_000300: 5.847e1

VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 1.57e0

DP
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SIO_000300: 5.610001e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.08420175072947e-5
allele num: 47980
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.701e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.609742e6

MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
SIO_000300: -3.205e0

QD
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SIO_000300: 1.49e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.84e1

FS
type: SiteQuality
SIO_000300: 2.236e0

ClippingRankSum
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SIO_000300: -1.304e0

DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 3.970617431010522e-4
allele num: 10074
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.084853539038883e-5
allele num: 47965
num of homozygotes: 0

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

African
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.23e0

DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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FS
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MQ
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SIO_000300: 5.851e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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GenotypeQuality
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bin: 4.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.084853539038883e-5
allele num: 47965
num of homozygotes: 0

MQ
type: SiteQuality
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DP
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BaseQRankSum
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MQRankSum
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 629
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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
allele num: 47900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.859999999999999e-2

QD
type: SiteQuality
SIO_000300: 2.775e1

MQ
type: SiteQuality
SIO_000300: 5.779e1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

FS
type: SiteQuality
SIO_000300: 1.222e0

VQSLOD
type: SiteQuality
SIO_000300: -3.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

DP
type: SiteQuality
SIO_000300: 5.594403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

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

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072616110693983e-4
allele num: 9323
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9811
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.175278177908603e-5
allele num: 47901
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

DP
type: SiteQuality
SIO_000300: 5.593354e6

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

QD
type: SiteQuality
SIO_000300: 1.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.802e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.444e-1

FS
type: SiteQuality
SIO_000300: 2.551e0

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

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.174398120963006e-4
allele num: 8515
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9323
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47901
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9811
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.444e-1

MQ
type: SiteQuality
SIO_000300: 5.802e1

DP
type: SiteQuality
SIO_000300: 5.593354e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

FS
type: SiteQuality
SIO_000300: 2.551e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.921e1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52550
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 5.363080553469913e-4
allele num: 9323
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 2.935995302407516e-3
allele num: 8515
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.088685590158114e-5
allele num: 47877
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.456e-1

FS
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 5.589613e6

VQSLOD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 5.746e1

QD
type: SiteQuality
SIO_000300: 1.858e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

GenotypeQuality
all individuals: 918
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52548
bin: 9.75e1
variant carriers: 96

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3531
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 9.248792518754496e-4
allele num: 9731
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.266842138246537e-5
allele num: 47871
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.519433564326605e-4
allele num: 6638
num of homozygotes: 0

African
type: Population
allele count: 81
allele frequency: 9.514859626453659e-3
allele num: 8513
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.145462347135808e-4
allele num: 9322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.199e-1

QD
type: SiteQuality
SIO_000300: 1.805e1

MQ
type: SiteQuality
SIO_000300: 5.774e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.776e1

FS
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

DP
type: SiteQuality
SIO_000300: 5.587059e6

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52536
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 2865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.091000334560053e-5
allele num: 47824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 5.571348e6

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.799e1

QD
type: SiteQuality
SIO_000300: 2.357e1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2935
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52537
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.090781743293818e-5
allele num: 47829
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 2.207505518763797e-3
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8513
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: -3.388e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.739e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.069999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.739e1

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 5.57129e6

GenotypeQuality
all individuals: 1598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52537
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.091612633340305e-5
allele num: 47810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9473
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.524436090225564e-4
allele num: 8512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.719e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 5.567487e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

MQ
type: SiteQuality
SIO_000300: 5.672e1

QD
type: SiteQuality
SIO_000300: 2.775e1

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 764
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52537
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9443
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.091743886878491e-5
allele num: 47807
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

FS
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.565711e6

MQ
type: SiteQuality
SIO_000300: 5.781e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.129e1

VQSLOD
type: SiteQuality
SIO_000300: -9.49e-1

GenotypeQuality
all individuals: 58
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 7.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8511
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.072961373390558e-4
allele num: 9320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.190000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.734e1

FS
type: SiteQuality
SIO_000300: 3.529e0

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.053e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 2.004e1

DP
type: SiteQuality
SIO_000300: 5.558899e6

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9305
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.047032709301839e-4
allele num: 47754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.557406e6

MQ
type: SiteQuality
SIO_000300: 5.77e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.969999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.119e0

VQSLOD
type: SiteQuality
SIO_000300: -6.806e-1

QD
type: SiteQuality
SIO_000300: 2.056e1

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9295
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47750
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.145922746781116e-4
allele num: 9320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

DP
type: SiteQuality
SIO_000300: 5.556583e6

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 1.966e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 52534
bin: 9.75e1
variant carriers: 6

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.259022998153433e-4
allele num: 47656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 617
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.457e1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.007e0

DP
type: SiteQuality
SIO_000300: 5.545802e6

GenotypeQuality
all individuals: 52535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.100575557702811e-5
allele num: 47606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8901
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.540276e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.702e1

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: -5.999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.454e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 1372
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
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GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 615
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8503
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8817
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.074229240519927e-4
allele num: 9309
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 5.536483e6

MQ
type: SiteQuality
SIO_000300: 5.773e1

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.432e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

GenotypeQuality
all individuals: 417
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
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GenotypeQuality
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GenotypeQuality
all individuals: 2483
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GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.75e1
variant carriers: 0