1-151317603-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317603
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317603
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.212G>C
  hgvsp: ENSP00000399095.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.212G>C
  hgvsp: ENSP00000398388.2:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*217G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.51G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.212G>C
  hgvsp: ENSP00000409187.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.212G>C
  hgvsp: ENSP00000413153.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.386G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.212G>C
  hgvsp: ENSP00000389130.2:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.212G>C
  hgvsp: ENSP00000398666.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.212G>C
  hgvsp: ENSP00000376502.3:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.423G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.212G>C
  hgvsp: ENSP00000390720.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.212G>C
  hgvsp: ENSP00000396810.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.212G>C
  hgvsp: ENSP00000387618.1:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*73G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.212G>C
  hgvsp: ENSP00000290524.4:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*73G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.212G>C
  hgvsp: ENSP00000357864.2:p.Gly71Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.445G>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly71Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-151317605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317605
    reference: chr 1
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.210A>G
  hgvsp: ENST00000412774.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.210A>G
  hgvsp: ENST00000422595.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.443A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.210A>G
  hgvsp: ENST00000458484.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.210A>G
  hgvsp: ENST00000430227.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.210A>G
  hgvsp: ENST00000290524.4:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*71A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.210A>G
  hgvsp: ENST00000452671.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.210A>G
  hgvsp: ENST00000392746.3:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*215A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.210A>G
  hgvsp: ENST00000437327.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.210A>G
  hgvsp: ENST00000436271.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*71A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.210A>G
  hgvsp: ENST00000368870.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.210A>G
  hgvsp: ENST00000450506.1:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.210A>G
  hgvsp: ENST00000452513.2:c.210A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.384A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.49A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.421A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser70Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

1-151317606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317606
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317606
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.209C>G
  hgvsp: ENSP00000357864.2:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.209C>G
  hgvsp: ENSP00000399095.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.209C>G
  hgvsp: ENSP00000376502.3:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.383C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*70C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.209C>G
  hgvsp: ENSP00000413153.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.209C>G
  hgvsp: ENSP00000389130.2:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.209C>G
  hgvsp: ENSP00000398666.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.209C>G
  hgvsp: ENSP00000398388.2:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.209C>G
  hgvsp: ENSP00000409187.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.209C>G
  hgvsp: ENSP00000390720.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.420C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.209C>G
  hgvsp: ENSP00000387618.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*70C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.442C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.48C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.209C>G
  hgvsp: ENSP00000290524.4:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*214C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.209C>G
  hgvsp: ENSP00000396810.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser70Ter
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-151317627-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317627
    reference: chr 1
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*193A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.188A>G
  hgvsp: ENSP00000396810.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.188A>G
  hgvsp: ENSP00000398388.2:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.188A>G
  hgvsp: ENSP00000413153.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.188A>G
  hgvsp: ENSP00000389130.2:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.188A>G
  hgvsp: ENSP00000290524.4:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*193A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.362A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.188A>G
  hgvsp: ENSP00000390720.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.188A>G
  hgvsp: ENSP00000387618.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.188A>G
  hgvsp: ENSP00000376502.3:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.188A>G
  hgvsp: ENSP00000409187.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.188A>G
  hgvsp: ENSP00000357864.2:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.188A>G
  hgvsp: ENSP00000398666.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.188A>G
  hgvsp: ENSP00000399095.1:p.Tyr63Cys
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.421A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr63Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-151317645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317645
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317645
    reference: chr 1
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.170C>T
  hgvsp: ENSP00000396810.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.170C>T
  hgvsp: ENSP00000387618.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.170C>T
  hgvsp: ENSP00000398666.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.170C>T
  hgvsp: ENSP00000357864.2:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.170C>T
  hgvsp: ENSP00000398388.2:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.170C>T
  hgvsp: ENSP00000389130.2:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*175C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.170C>T
  hgvsp: ENSP00000399095.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.170C>T
  hgvsp: ENSP00000376502.3:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.9C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.170C>T
  hgvsp: ENSP00000413153.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.170C>T
  hgvsp: ENSP00000409187.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.170C>T
  hgvsp: ENSP00000390720.1:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.170C>T
  hgvsp: ENSP00000290524.4:p.Ser57Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.403C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.344C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*31C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*175C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser57Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-151317650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317650
    reference: chr 1
allele count: 2
allele frequency: 1.6583472910897e-5
allele num: 120602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.165A>G
  hgvsp: ENST00000452513.2:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000469513
  gene symbol: RFX5
  hgvsc: ENST00000469513.1:n.4A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.165A>G
  hgvsp: ENST00000450506.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.376A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*26A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.165A>G
  hgvsp: ENST00000422595.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.165A>G
  hgvsp: ENST00000290524.4:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.165A>G
  hgvsp: ENST00000458484.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.165A>G
  hgvsp: ENST00000392746.3:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.165A>G
  hgvsp: ENST00000430227.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.165A>G
  hgvsp: ENST00000452671.2:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.339A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.165A>G
  hgvsp: ENST00000368870.2:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.165A>G
  hgvsp: ENST00000437327.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.165A>G
  hgvsp: ENST00000436271.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*170A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*170A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.165A>G
  hgvsp: ENST00000412774.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.398A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys55Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-151317659-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317659
    reference: chr 1
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.156T>G
  hgvsp: ENSP00000398388.2:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.156T>G
  hgvsp: ENSP00000396810.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.156T>G
  hgvsp: ENSP00000398666.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.156T>G
  hgvsp: ENSP00000389130.2:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*17T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.156T>G
  hgvsp: ENSP00000399095.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.156T>G
  hgvsp: ENSP00000409187.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.156T>G
  hgvsp: ENSP00000376502.3:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.330T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.156T>G
  hgvsp: ENSP00000390720.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.156T>G
  hgvsp: ENSP00000387618.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.156T>G
  hgvsp: ENSP00000413153.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.367T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.156T>G
  hgvsp: ENSP00000357864.2:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*161T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.389T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*161T>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.156T>G
  hgvsp: ENSP00000290524.4:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*17T>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp52Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

1-151317667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317667
    reference: chr 1
allele count: 1
allele frequency: 8.489396743467409e-6
allele num: 117794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-3C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-3C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.151-3C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-151317672-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317672
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317672
    reference: chr 1
allele count: 1
allele frequency: 8.610297916307904e-6
allele num: 116140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-8T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-8T>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.151-8T>A
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-151317674-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317674
    reference: chr 1
allele count: 1
allele frequency: 8.664760419374404e-6
allele num: 115410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-10C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-10C>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-151317679-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317679
    reference: chr 1
allele count: 2
allele frequency: 1.750424477935899e-5
allele num: 114258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-15T>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-15T>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

1-151317683-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317683
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317683
    reference: chr 1
allele count: 1
allele frequency: 8.85629771330393e-6
allele num: 112914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-19C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-19C>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-151317690-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317690
    reference: chr 1
allele count: 18
allele frequency: 1.62299605070961e-4
allele num: 110906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-26C>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-151317694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317694
    reference: chr 1
allele count: 1
allele frequency: 9.101002930522944e-6
allele num: 109878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-30T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-30T>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-151317707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317707
    reference: chr 1
allele count: 13
allele frequency: 1.272214828153136e-4
allele num: 102184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-43T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-43T>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-151317708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317708
    reference: chr 1
allele count: 2
allele frequency: 1.957943376277558e-5
allele num: 102148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*156-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*156-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-44C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-44C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-151317714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151317714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151317714
    reference: chr 1
allele count: 4
allele frequency: 4.103237454351483e-5
allele num: 97484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.325-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*12-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.*155+48G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.362-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*12-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.*155+48G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.151-50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.384-50G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-151318372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318372
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318372
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+32G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+32G>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-151318377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318377
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+27A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-151318378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318378
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318378
    reference: chr 1
allele count: 643
allele frequency: 5.296016868184364e-3
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+26G>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-151318381-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318381
    reference: chr 1
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+23C>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-151318389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318389
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+15G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-151318393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318393
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318393
    reference: chr 1
allele count: 36
allele frequency: 2.965110532731526e-4
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*11+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.383+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.324+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.150+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*11+11T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.361+11T>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-151318408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318408
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.146T>C
  hgvsp: ENSP00000387618.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.379T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.146T>C
  hgvsp: ENSP00000290524.4:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.146T>C
  hgvsp: ENSP00000390720.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.146T>C
  hgvsp: ENSP00000409187.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.146T>C
  hgvsp: ENSP00000398388.2:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.146T>C
  hgvsp: ENSP00000376502.3:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.146T>C
  hgvsp: ENSP00000398666.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.146T>C
  hgvsp: ENSP00000357864.2:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.146T>C
  hgvsp: ENSP00000412900.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.146T>C
  hgvsp: ENSP00000389130.2:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.146T>C
  hgvsp: ENSP00000413153.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.146T>C
  hgvsp: ENSP00000396810.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.320T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.146T>C
  hgvsp: ENSP00000405067.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.357T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.146T>C
  hgvsp: ENSP00000399095.1:p.Ile49Thr
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile49Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-151318410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318410
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318410
    reference: chr 1
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.144G>A
  hgvsp: ENST00000458484.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.144G>A
  hgvsp: ENST00000436271.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.144G>A
  hgvsp: ENST00000452513.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.377G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.144G>A
  hgvsp: ENST00000290524.4:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.144G>A
  hgvsp: ENST00000422595.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.144G>A
  hgvsp: ENST00000452671.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.144G>A
  hgvsp: ENST00000437327.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.144G>A
  hgvsp: ENST00000392746.3:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.144G>A
  hgvsp: ENST00000368870.2:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.144G>A
  hgvsp: ENST00000452456.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.144G>A
  hgvsp: ENST00000444392.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.355G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.144G>A
  hgvsp: ENST00000412774.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.144G>A
  hgvsp: ENST00000430227.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.144G>A
  hgvsp: ENST00000450506.1:c.144G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.*5G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.318G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly48Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-151318416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318416
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318416
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.138A>G
  hgvsp: ENST00000412774.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.134A>G
  hgvsp: ENSP00000399372.1:p.Ter45TrpextTer38
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.128A>G
  hgvsp: ENSP00000415012.1:p.Ter43TrpextTer38
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.138A>G
  hgvsp: ENST00000437327.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.312A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.138A>G
  hgvsp: ENST00000392746.3:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.138A>G
  hgvsp: ENST00000452513.2:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.138A>G
  hgvsp: ENST00000452456.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.138A>G
  hgvsp: ENST00000452671.2:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.138A>G
  hgvsp: ENST00000430227.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.138A>G
  hgvsp: ENST00000422595.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.138A>G
  hgvsp: ENST00000444392.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.138A>G
  hgvsp: ENST00000458484.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.138A>G
  hgvsp: ENST00000450506.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.138A>G
  hgvsp: ENST00000368870.2:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.138A>G
  hgvsp: ENST00000436271.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.371A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.138A>G
  hgvsp: ENST00000290524.4:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.349A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter43TrpextTer38
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-151318424-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318424
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.130A>C
  hgvsp: ENSP00000398388.2:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.120A>C
  hgvsp: ENSP00000415012.1:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.130A>C
  hgvsp: ENSP00000412900.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.341A>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.363A>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.126A>C
  hgvsp: ENSP00000399372.1:p.Arg42Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.130A>C
  hgvsp: ENSP00000357864.2:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.130A>C
  hgvsp: ENSP00000390720.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.130A>C
  hgvsp: ENSP00000405067.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.130A>C
  hgvsp: ENSP00000413153.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.130A>C
  hgvsp: ENSP00000399095.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.304A>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.130A>C
  hgvsp: ENSP00000409187.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.130A>C
  hgvsp: ENSP00000398666.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.130A>C
  hgvsp: ENSP00000376502.3:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.130A>C
  hgvsp: ENSP00000290524.4:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.130A>C
  hgvsp: ENSP00000396810.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.130A>C
  hgvsp: ENSP00000389130.2:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.130A>C
  hgvsp: ENSP00000387618.1:p.Asn44His
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn44His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-151318430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318430
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318430
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.124G>A
  hgvsp: ENSP00000413153.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.357G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.124G>A
  hgvsp: ENSP00000398666.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.124G>A
  hgvsp: ENSP00000290524.4:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.124G>A
  hgvsp: ENSP00000357864.2:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.124G>A
  hgvsp: ENSP00000389130.2:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.298G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.120G>A
  hgvsp: ENST00000421986.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.124G>A
  hgvsp: ENSP00000387618.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.124G>A
  hgvsp: ENSP00000412900.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.124G>A
  hgvsp: ENSP00000390720.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.124G>A
  hgvsp: ENSP00000405067.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.114G>A
  hgvsp: ENST00000435314.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.124G>A
  hgvsp: ENSP00000376502.3:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.124G>A
  hgvsp: ENSP00000398388.2:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.335G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.124G>A
  hgvsp: ENSP00000409187.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.124G>A
  hgvsp: ENSP00000396810.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.124G>A
  hgvsp: ENSP00000399095.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val42Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-151318431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318431
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318431
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.123C>T
  hgvsp: ENST00000422595.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.123C>T
  hgvsp: ENST00000430227.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.113C>T
  hgvsp: ENSP00000415012.1:p.Pro38Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.297C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.356C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.123C>T
  hgvsp: ENST00000436271.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.123C>T
  hgvsp: ENST00000412774.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.123C>T
  hgvsp: ENST00000452671.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.123C>T
  hgvsp: ENST00000452513.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.123C>T
  hgvsp: ENST00000368870.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.123C>T
  hgvsp: ENST00000437327.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.334C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.123C>T
  hgvsp: ENST00000392746.3:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.123C>T
  hgvsp: ENST00000458484.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.119C>T
  hgvsp: ENSP00000399372.1:p.Pro40Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.123C>T
  hgvsp: ENST00000452456.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.123C>T
  hgvsp: ENST00000450506.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.123C>T
  hgvsp: ENST00000444392.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.123C>T
  hgvsp: ENST00000290524.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro38Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

1-151318450-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318450
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318450
    reference: chr 1
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.332-17C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.107-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.117-17C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.291-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.117-13C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.350-13C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-151318455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318455
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318455
    reference: chr 1
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.107-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.291-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.350-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.117-22T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.332-22T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.117-18T>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

1-151318472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318472
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318472
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.332-39G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.350-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.107-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.117-39G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.291-35G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.117-35G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-151318478-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318478
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318478
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.107-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.350-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.291-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.332-45A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.117-45A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.117-41A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-151318630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318630
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+61C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+51C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+51C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-151318630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318630
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+61C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+51C>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-151318637-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318637
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+54A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+44A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-151318641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318641
    reference: chr 1
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+50G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+40G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+40G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

1-151318648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318648
    reference: chr 1
allele count: 287
allele frequency: 2.364747952474334e-3
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+43A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+33A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 3
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-151318649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318649
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+42C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+32C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-151318649-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318649
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318649
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+42C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+32C>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-151318650-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318650
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318650
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+41C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+31C>A
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-151318658-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318658
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+33A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+23A>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

1-151318659-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318659
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+32A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+22A>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-151318663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318663
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318663
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+28C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+18C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

1-151318666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318666
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318666
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+25C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+15C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+15C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-151318669-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318669
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318669
    reference: chr 1
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+22T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.290+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116+12T>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331+12T>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-151318681-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318681
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318681
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+10C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.116C>T
  hgvsp: ENSP00000376502.3:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.116C>T
  hgvsp: ENSP00000389130.2:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.116C>T
  hgvsp: ENSP00000399095.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.116C>T
  hgvsp: ENSP00000412900.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.349C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.116C>T
  hgvsp: ENSP00000290524.4:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.116C>T
  hgvsp: ENSP00000357864.2:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.116C>T
  hgvsp: ENSP00000390720.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.116C>T
  hgvsp: ENSP00000387618.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.116C>T
  hgvsp: ENSP00000413153.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.116C>T
  hgvsp: ENSP00000398388.2:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.116C>T
  hgvsp: ENSP00000396810.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.116C>T
  hgvsp: ENSP00000399372.1:p.Ser39Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.116C>T
  hgvsp: ENSP00000409187.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.331C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.116C>T
  hgvsp: ENSP00000398666.1:p.Ser39Phe
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser39Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-151318686-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318686
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318686
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.111C>A
  hgvsp: ENST00000458484.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.111C>A
  hgvsp: ENST00000452456.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.111C>A
  hgvsp: ENST00000430227.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.111C>A
  hgvsp: ENST00000436271.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.111C>A
  hgvsp: ENST00000422595.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.111C>A
  hgvsp: ENST00000412774.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.111C>A
  hgvsp: ENST00000452671.2:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.285C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.111C>A
  hgvsp: ENST00000290524.4:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.111C>A
  hgvsp: ENST00000392746.3:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.326C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.111C>A
  hgvsp: ENST00000421986.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.111C>A
  hgvsp: ENST00000450506.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.111C>A
  hgvsp: ENST00000437327.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.111C>A
  hgvsp: ENST00000444392.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+5C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.344C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.111C>A
  hgvsp: ENST00000452513.2:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.111C>A
  hgvsp: ENST00000368870.2:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9986
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.106+5C>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

1-151318688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318688
    reference: chr 1
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.109A>G
  hgvsp: ENSP00000398388.2:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.109A>G
  hgvsp: ENSP00000290524.4:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.109A>G
  hgvsp: ENSP00000398666.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.109A>G
  hgvsp: ENSP00000405067.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.109A>G
  hgvsp: ENSP00000389130.2:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.109A>G
  hgvsp: ENSP00000399372.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.109A>G
  hgvsp: ENSP00000399095.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.109A>G
  hgvsp: ENSP00000376502.3:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.109A>G
  hgvsp: ENSP00000396810.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.342A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.109A>G
  hgvsp: ENSP00000357864.2:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.109A>G
  hgvsp: ENSP00000390720.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.109A>G
  hgvsp: ENSP00000413153.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.324A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.283A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.109A>G
  hgvsp: ENSP00000412900.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+3A>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.109A>G
  hgvsp: ENSP00000409187.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.109A>G
  hgvsp: ENSP00000387618.1:p.Thr37Ala
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr37Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-151318690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318690
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318690
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.106+1G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.107G>A
  hgvsp: ENSP00000387618.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.107G>A
  hgvsp: ENSP00000396810.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.107G>A
  hgvsp: ENSP00000405067.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.107G>A
  hgvsp: ENSP00000398666.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.281G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.107G>A
  hgvsp: ENSP00000399095.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.107G>A
  hgvsp: ENSP00000398388.2:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.107G>A
  hgvsp: ENSP00000376502.3:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.340G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.107G>A
  hgvsp: ENSP00000399372.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.107G>A
  hgvsp: ENSP00000290524.4:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.107G>A
  hgvsp: ENSP00000413153.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.107G>A
  hgvsp: ENSP00000390720.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.107G>A
  hgvsp: ENSP00000357864.2:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.107G>A
  hgvsp: ENSP00000389130.2:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.107G>A
  hgvsp: ENSP00000412900.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.107G>A
  hgvsp: ENSP00000409187.1:p.Gly36Asp
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.322G>A
  variant of: http://identifiers.org/hgnc/9986
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.106+1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-151318693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318693
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318693
    reference: chr 1
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.104G>A
  hgvsp: ENSP00000390720.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.104G>A
  hgvsp: ENSP00000399095.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.104G>A
  hgvsp: ENSP00000412900.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.104G>A
  hgvsp: ENSP00000398388.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.104G>A
  hgvsp: ENSP00000413153.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.104G>A
  hgvsp: ENSP00000357864.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.337G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.104G>A
  hgvsp: ENSP00000398666.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.104G>A
  hgvsp: ENSP00000405067.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.104G>A
  hgvsp: ENSP00000415012.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.319G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.104G>A
  hgvsp: ENSP00000376502.3:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.104G>A
  hgvsp: ENSP00000409187.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.104G>A
  hgvsp: ENSP00000399372.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.278G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.104G>A
  hgvsp: ENSP00000389130.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.104G>A
  hgvsp: ENSP00000387618.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.104G>A
  hgvsp: ENSP00000290524.4:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.104G>A
  hgvsp: ENSP00000396810.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-151318698-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318698
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.314G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.99G>T
  hgvsp: ENSP00000415012.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.99G>T
  hgvsp: ENSP00000399095.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.99G>T
  hgvsp: ENSP00000398666.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.99G>T
  hgvsp: ENSP00000398388.2:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.99G>T
  hgvsp: ENSP00000405067.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.332G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.273G>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.99G>T
  hgvsp: ENSP00000376502.3:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.99G>T
  hgvsp: ENSP00000396810.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.99G>T
  hgvsp: ENSP00000413153.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.99G>T
  hgvsp: ENSP00000387618.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.99G>T
  hgvsp: ENSP00000409187.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.99G>T
  hgvsp: ENSP00000412900.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.99G>T
  hgvsp: ENSP00000357864.2:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.99G>T
  hgvsp: ENSP00000390720.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.99G>T
  hgvsp: ENSP00000290524.4:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.99G>T
  hgvsp: ENSP00000399372.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.99G>T
  hgvsp: ENSP00000389130.2:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-151318712-TGGTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318708
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.81_84delTACC
  hgvsp: ENSP00000412900.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.81_84delTACC
  hgvsp: ENSP00000405067.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.81_84delTACC
  hgvsp: ENSP00000390720.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.81_84delTACC
  hgvsp: ENSP00000357864.2:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.314_317delTACC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.81_84delTACC
  hgvsp: ENSP00000396810.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.81_84delTACC
  hgvsp: ENSP00000290524.4:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.81_84delTACC
  hgvsp: ENSP00000389130.2:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.81_84delTACC
  hgvsp: ENSP00000398666.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.81_84delTACC
  hgvsp: ENSP00000413153.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.81_84delTACC
  hgvsp: ENSP00000399372.1:p.Thr28ProfsTer28
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.81_84delTACC
  hgvsp: ENSP00000376502.3:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.81_84delTACC
  hgvsp: ENSP00000399095.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.81_84delTACC
  hgvsp: ENSP00000398388.2:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.81_84delTACC
  hgvsp: ENSP00000415012.1:p.Thr28ProfsTer26
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.255_258delTACC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.81_84delTACC
  hgvsp: ENSP00000387618.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.296_299delTACC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.81_84delTACC
  hgvsp: ENSP00000409187.1:p.Thr28ProfsTer18
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr28ProfsTer18
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: TGGTA
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-151318717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318717
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.80C>T
  hgvsp: ENSP00000357864.2:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.80C>T
  hgvsp: ENSP00000387618.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.80C>T
  hgvsp: ENSP00000413153.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.295C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.313C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.80C>T
  hgvsp: ENSP00000398388.2:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.80C>T
  hgvsp: ENSP00000398666.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.80C>T
  hgvsp: ENSP00000409187.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.80C>T
  hgvsp: ENSP00000376502.3:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.80C>T
  hgvsp: ENSP00000399095.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.80C>T
  hgvsp: ENSP00000290524.4:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.80C>T
  hgvsp: ENSP00000405067.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.80C>T
  hgvsp: ENSP00000412900.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.80C>T
  hgvsp: ENSP00000415012.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.80C>T
  hgvsp: ENSP00000396810.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.80C>T
  hgvsp: ENSP00000399372.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.80C>T
  hgvsp: ENSP00000389130.2:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.80C>T
  hgvsp: ENSP00000390720.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.254C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro27Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-151318726-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318726
    reference: chr 1
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.71C>G
  hgvsp: ENSP00000399372.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.71C>G
  hgvsp: ENSP00000399095.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.71C>G
  hgvsp: ENSP00000415012.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.71C>G
  hgvsp: ENSP00000398666.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.71C>G
  hgvsp: ENSP00000357864.2:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.71C>G
  hgvsp: ENSP00000396810.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.245C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.304C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.71C>G
  hgvsp: ENSP00000413153.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.71C>G
  hgvsp: ENSP00000409187.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.71C>G
  hgvsp: ENSP00000376502.3:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.71C>G
  hgvsp: ENSP00000405067.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.71C>G
  hgvsp: ENSP00000387618.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.71C>G
  hgvsp: ENSP00000412900.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.71C>G
  hgvsp: ENSP00000389130.2:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.71C>G
  hgvsp: ENSP00000398388.2:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.286C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.71C>G
  hgvsp: ENSP00000390720.1:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.71C>G
  hgvsp: ENSP00000290524.4:p.Ala24Gly
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala24Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

1-151318733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318733
    reference: chr 1
allele count: 625
allele frequency: 5.149457865075965e-3
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.64G>A
  hgvsp: ENSP00000290524.4:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.64G>A
  hgvsp: ENSP00000415012.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.64G>A
  hgvsp: ENSP00000409187.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.64G>A
  hgvsp: ENSP00000389130.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.64G>A
  hgvsp: ENSP00000376502.3:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.64G>A
  hgvsp: ENSP00000399095.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.297G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.279G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.64G>A
  hgvsp: ENSP00000405067.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.64G>A
  hgvsp: ENSP00000396810.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.64G>A
  hgvsp: ENSP00000399372.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.64G>A
  hgvsp: ENSP00000412900.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.64G>A
  hgvsp: ENSP00000413153.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.64G>A
  hgvsp: ENSP00000398666.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.64G>A
  hgvsp: ENSP00000398388.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.64G>A
  hgvsp: ENSP00000357864.2:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.238G>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.64G>A
  hgvsp: ENSP00000390720.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.64G>A
  hgvsp: ENSP00000387618.1:p.Ala22Thr
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala22Thr
num of homozygotes: 16
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

1-151318738-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318738
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.59G>C
  hgvsp: ENSP00000398388.2:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.59G>C
  hgvsp: ENSP00000290524.4:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.292G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.59G>C
  hgvsp: ENSP00000387618.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.59G>C
  hgvsp: ENSP00000376502.3:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.59G>C
  hgvsp: ENSP00000399095.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.59G>C
  hgvsp: ENSP00000415012.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.59G>C
  hgvsp: ENSP00000412900.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.59G>C
  hgvsp: ENSP00000389130.2:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.59G>C
  hgvsp: ENSP00000396810.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.59G>C
  hgvsp: ENSP00000398666.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.59G>C
  hgvsp: ENSP00000357864.2:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.59G>C
  hgvsp: ENSP00000409187.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.59G>C
  hgvsp: ENSP00000413153.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.274G>C
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.59G>C
  hgvsp: ENSP00000405067.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.59G>C
  hgvsp: ENSP00000399372.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.59G>C
  hgvsp: ENSP00000390720.1:p.Gly20Ala
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.233G>C
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly20Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-151318740-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
allele count: 6
allele frequency: 4.946658532161525e-5
allele num: 121294
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.56dupC
  hgvsp: ENSP00000389130.2:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.230dupC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.56dupC
  hgvsp: ENSP00000290524.4:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.56dupC
  hgvsp: ENSP00000399372.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.56dupC
  hgvsp: ENSP00000413153.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.56dupC
  hgvsp: ENSP00000398666.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.56dupC
  hgvsp: ENSP00000412900.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.56dupC
  hgvsp: ENSP00000409187.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.56dupC
  hgvsp: ENSP00000357864.2:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.56dupC
  hgvsp: ENSP00000396810.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.56dupC
  hgvsp: ENSP00000405067.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.56dupC
  hgvsp: ENSP00000387618.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.271dupC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.56dupC
  hgvsp: ENSP00000399095.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.289dupC
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.56dupC
  hgvsp: ENSP00000398388.2:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.56dupC
  hgvsp: ENSP00000415012.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.56dupC
  hgvsp: ENSP00000390720.1:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.56dupC
  hgvsp: ENSP00000376502.3:p.Gly20ArgfsTer4
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly20ArgfsTer4
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

1-151318741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.56C>T
  hgvsp: ENSP00000389130.2:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.56C>T
  hgvsp: ENSP00000413153.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.56C>T
  hgvsp: ENSP00000387618.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.56C>T
  hgvsp: ENSP00000412900.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.56C>T
  hgvsp: ENSP00000357864.2:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.56C>T
  hgvsp: ENSP00000396810.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.56C>T
  hgvsp: ENSP00000398666.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.56C>T
  hgvsp: ENSP00000405067.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.56C>T
  hgvsp: ENSP00000376502.3:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.56C>T
  hgvsp: ENSP00000390720.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.56C>T
  hgvsp: ENSP00000409187.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.289C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.56C>T
  hgvsp: ENSP00000290524.4:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.56C>T
  hgvsp: ENSP00000399095.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.56C>T
  hgvsp: ENSP00000415012.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.230C>T
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.56C>T
  hgvsp: ENSP00000399372.1:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.56C>T
  hgvsp: ENSP00000398388.2:p.Pro19Leu
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.271C>T
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro19Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-151318741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.56C>G
  hgvsp: ENSP00000357864.2:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.56C>G
  hgvsp: ENSP00000398388.2:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.56C>G
  hgvsp: ENSP00000396810.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.56C>G
  hgvsp: ENSP00000387618.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.56C>G
  hgvsp: ENSP00000405067.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.56C>G
  hgvsp: ENSP00000399095.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.56C>G
  hgvsp: ENSP00000290524.4:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.56C>G
  hgvsp: ENSP00000413153.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.56C>G
  hgvsp: ENSP00000389130.2:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.56C>G
  hgvsp: ENSP00000398666.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.230C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.56C>G
  hgvsp: ENSP00000399372.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.56C>G
  hgvsp: ENSP00000376502.3:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.56C>G
  hgvsp: ENSP00000390720.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.56C>G
  hgvsp: ENSP00000409187.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.56C>G
  hgvsp: ENSP00000412900.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.56C>G
  hgvsp: ENSP00000415012.1:p.Pro19Arg
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.271C>G
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.289C>G
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro19Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-151318741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 151318741
    reference: chr 1
allele count: 4
allele frequency: 3.298370604921169e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000409187
  ensembl transcript: ENST00000458484
  gene symbol: RFX5
  hgvsc: ENST00000458484.1:c.56C>A
  hgvsp: ENSP00000409187.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000376502
  ensembl transcript: ENST00000392746
  gene symbol: RFX5
  hgvsc: ENST00000392746.3:c.56C>A
  hgvsp: ENSP00000376502.3:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398666
  ensembl transcript: ENST00000450506
  gene symbol: RFX5
  hgvsc: ENST00000450506.1:c.56C>A
  hgvsp: ENSP00000398666.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000290524
  ensembl transcript: ENST00000290524
  gene symbol: RFX5
  hgvsc: ENST00000290524.4:c.56C>A
  hgvsp: ENSP00000290524.4:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000415012
  ensembl transcript: ENST00000435314
  gene symbol: RFX5
  hgvsc: ENST00000435314.1:c.56C>A
  hgvsp: ENSP00000415012.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000494217
  gene symbol: RFX5
  hgvsc: ENST00000494217.1:n.271C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000396810
  ensembl transcript: ENST00000412774
  gene symbol: RFX5
  hgvsc: ENST00000412774.1:c.56C>A
  hgvsp: ENSP00000396810.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399095
  ensembl transcript: ENST00000422595
  gene symbol: RFX5
  hgvsc: ENST00000422595.1:c.56C>A
  hgvsp: ENSP00000399095.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000479681
  gene symbol: RFX5
  hgvsc: ENST00000479681.1:n.289C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000399372
  ensembl transcript: ENST00000421986
  gene symbol: RFX5
  hgvsc: ENST00000421986.1:c.56C>A
  hgvsp: ENSP00000399372.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000390720
  ensembl transcript: ENST00000436271
  gene symbol: RFX5
  hgvsc: ENST00000436271.1:c.56C>A
  hgvsp: ENSP00000390720.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143390
  ensembl transcript: ENST00000478564
  gene symbol: RFX5
  hgvsc: ENST00000478564.1:n.230C>A
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000413153
  ensembl transcript: ENST00000437327
  gene symbol: RFX5
  hgvsc: ENST00000437327.1:c.56C>A
  hgvsp: ENSP00000413153.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000412900
  ensembl transcript: ENST00000444392
  gene symbol: RFX5
  hgvsc: ENST00000444392.1:c.56C>A
  hgvsp: ENSP00000412900.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000357864
  ensembl transcript: ENST00000368870
  gene symbol: RFX5
  hgvsc: ENST00000368870.2:c.56C>A
  hgvsp: ENSP00000357864.2:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000398388
  ensembl transcript: ENST00000452513
  gene symbol: RFX5
  hgvsc: ENST00000452513.2:c.56C>A
  hgvsp: ENSP00000398388.2:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000387618
  ensembl transcript: ENST00000430227
  gene symbol: RFX5
  hgvsc: ENST00000430227.1:c.56C>A
  hgvsp: ENSP00000387618.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000405067
  ensembl transcript: ENST00000452456
  gene symbol: RFX5
  hgvsc: ENST00000452456.1:c.56C>A
  hgvsp: ENSP00000405067.1:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143390
  ensembl protein: ENSP00000389130
  ensembl transcript: ENST00000452671
  gene symbol: RFX5
  hgvsc: ENST00000452671.2:c.56C>A
  hgvsp: ENSP00000389130.2:p.Pro19Gln
  variant of: http://identifiers.org/hgnc/9986
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro19Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10576
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10914
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28632
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8561
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40425
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.204e0

MQRankSum
type: SiteQuality
SIO_000300: -1.931e0

VQSLOD
type: SiteQuality
SIO_000300: -1.284e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.128121e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 4.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10560
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28641
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1716
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10913
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8560
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

DP
type: SiteQuality
SIO_000300: 2.127945e6

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 4.059e0

GenotypeDepth
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28638
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10565
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1719
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8559
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40414
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

DP
type: SiteQuality
SIO_000300: 2.12798e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143390
ensembl transcript: ENST00000494217
gene symbol: RFX5
hgvsc: ENST00000494217.1:n.399A>G
variant of: http://identifiers.org/hgnc/9986

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10481
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10893
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28639
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 90
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8556
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.972e-1

DP
type: SiteQuality
SIO_000300: 2.126263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

QD
type: SiteQuality
SIO_000300: 1.292e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000143390
ensembl transcript: ENST00000494217
gene symbol: RFX5
hgvsc: ENST00000494217.1:n.381C>T
variant of: http://identifiers.org/hgnc/9986

GenotypeDepth
all individuals: 1694
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 683
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28458
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10260
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10802
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7376
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.226e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.122e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

DP
type: SiteQuality
SIO_000300: 2.118535e6

QD
type: SiteQuality
SIO_000300: 7.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -8.858e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143390
ensembl protein: ENSP00000399372
ensembl transcript: ENST00000421986
gene symbol: RFX5
hgvsc: ENST00000421986.1:c.*26A>G
variant of: http://identifiers.org/hgnc/9986

GenotypeDepth
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28263
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 395
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2474
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 590
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10090
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10758
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 681
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8547
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39677
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013500482160077e-5
allele num: 66368
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.2619e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.112389e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

VQSLOD
type: SiteQuality
SIO_000300: -1.704e0

QD
type: SiteQuality
SIO_000300: 1.476e1

GenotypeDepth
all individuals: 2473
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1653
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10446
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1611
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27458
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 484
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 671
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 477
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 296
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.701e1

FS
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.479e1

DP
type: SiteQuality
SIO_000300: 2.086053e6

GenotypeDepth
all individuals: 25145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1584
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 547
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9604
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4104
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1767
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2474
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 624
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8822
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 287
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34676
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 833
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8531
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.248437890527369e-5
allele num: 16004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.023174e6

MQ
type: SiteQuality
SIO_000300: 5.908e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.847e0

MQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 7.116e0

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeDepth
all individuals: 519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7704
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 568
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 479
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2573
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6985
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 655
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

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

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

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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Latino
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Latino
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Other
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European (Non-Finnish)
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East Asian
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African
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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DP
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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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European (Non-Finnish)
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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African
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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DP
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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African
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European (Finnish)
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Latino
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East Asian
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FS
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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
all individuals: 86
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
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SIO_000300: 5.98e1

QD
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SIO_000300: 1.225e1

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

FS
type: SiteQuality
SIO_000300: 2.785e0

DP
type: SiteQuality
SIO_000300: 6.650342e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeDepth
all individuals: 37
bin: 2.25e1
variant carriers: 1

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 554

GenotypeDepth
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GenotypeDepth
all individuals: 3307
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variant carriers: 14

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 641

GenotypeQuality
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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
bin: 3.75e1
variant carriers: 0

Latino
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allele count: 13
allele frequency: 1.122819139747797e-3
allele num: 11578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 134
allele frequency: 8.11531007751938e-3
allele num: 16512
num of homozygotes: 1

African
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allele count: 10
allele frequency: 9.609840476648087e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814333232537043e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 472
allele frequency: 7.072220557386874e-3
allele num: 66740
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

MQ
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SIO_000300: 5.955e1

BaseQRankSum
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SIO_000300: 1.06e0

ClippingRankSum
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SIO_000300: -3.34e-1

VQSLOD
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SIO_000300: 3.97e0

ReadPosRankSum
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SIO_000300: 8.03e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

DP
type: SiteQuality
SIO_000300: 6.676092e6

QD
type: SiteQuality
SIO_000300: 1.384e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

QD
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SIO_000300: 1.249e1

ReadPosRankSum
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SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 6.653879e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

BaseQRankSum
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SIO_000300: -1.485e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.45e0

MQRankSum
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SIO_000300: 2.55e-1

ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -4.827e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.952e1

QD
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SIO_000300: 1.493e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 35

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 36
allele frequency: 2.180232558139535e-3
allele num: 16512
num of homozygotes: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

InbreedingCoeff
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SIO_000300: 5.05e-2

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

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

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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African
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East Asian
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South Asian
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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South Asian
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Latino
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African
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European (Non-Finnish)
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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FS
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QD
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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East Asian
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DP
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FS
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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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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VQSLOD
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DP
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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MQRankSum
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MQ
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VQSLOD
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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FS
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MQ
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GenotypeQuality
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Latino
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3429
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9007
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3314
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

VQSLOD
type: SiteQuality
SIO_000300: -3.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.5119e1

DP
type: SiteQuality
SIO_000300: 2.074796e6

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.808e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 444
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3435
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20564
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7741
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17723
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28638
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.074863e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.256e0

QD
type: SiteQuality
SIO_000300: 1.556e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000143390
ensembl protein: ENSP00000405067
ensembl transcript: ENST00000452456
gene symbol: RFX5
hgvsc: ENST00000452456.1:c.116C>T
hgvsp: ENSP00000405067.1:p.Ser39Phe
variant of: http://identifiers.org/hgnc/9986

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000143390
ensembl transcript: ENST00000478564
gene symbol: RFX5
hgvsc: ENST00000478564.1:n.290C>T
variant of: http://identifiers.org/hgnc/9986

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

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2477
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20567
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3445
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 578
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7741
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4205
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17723
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28657
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.807e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.427e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.76e-1

DP
type: SiteQuality
SIO_000300: 2.074534e6

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2477
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20573
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3442
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17723
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 578
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7740
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9003
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4441
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.625e0

DP
type: SiteQuality
SIO_000300: 2.074534e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.859e1

FS
type: SiteQuality
SIO_000300: 3.633e0

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7740
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 879
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20571
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3445
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17724
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 578
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2477
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9003
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8316
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 2307
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4440
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.074602e6

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7739
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4204
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3448
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2477
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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MQ
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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MQ
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GenotypeDepth
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European (Finnish)
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South Asian
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VQSLOD
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GenotypeQuality
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South Asian
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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South Asian
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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Other
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Latino
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Latino
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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MQ
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
all individuals: 3535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20807
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1503
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7763
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7746
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9055
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.044e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 2.035734e6

FS
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeDepth
all individuals: 71
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7763
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4204
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 314
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20807
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1503
bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2488
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 875
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17827
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 46
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 552
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2309
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7746
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28942
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.891287586738628e-4
allele num: 10376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 6.14e-1

DP
type: SiteQuality
SIO_000300: 2.035734e6

MQ
type: SiteQuality
SIO_000300: 5.988e1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1