8-38286830-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286830
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286830
    reference: chr 8
allele count: 22
allele frequency: 2.871762740183793e-4
allele num: 76608
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1509C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7371C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.437C>T
  hgvsp: ENSP00000433163.1:p.Thr146Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.170C>T
  hgvsp: ENSP00000435254.1:p.Thr57Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+370C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-877C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-877C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr57Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

8-38286838-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286838
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286838
    reference: chr 8
allele count: 2
allele frequency: 2.520605953671263e-5
allele num: 79346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.162A>C
  hgvsp: ENST00000487647.1:c.162A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1501A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7379A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.429A>C
  hgvsp: ENST00000484370.1:c.429A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+362A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-885A>C
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly54Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

8-38286854-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286854
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286854
    reference: chr 8
allele count: 17
allele frequency: 2.12155247722451e-4
allele num: 80130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1485C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.146C>A
  hgvsp: ENSP00000435254.1:p.Thr49Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.413C>A
  hgvsp: ENSP00000433163.1:p.Thr138Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-901C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+346C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+346C>A
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr49Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-38286855-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286855
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286855
    reference: chr 8
allele count: 1
allele frequency: 1.247785181303187e-5
allele num: 80142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.145A>C
  hgvsp: ENSP00000435254.1:p.Thr49Pro
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1484A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.412A>C
  hgvsp: ENSP00000433163.1:p.Thr138Pro
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7396A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+345A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-902A>C
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr49Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-38286856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286856
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286856
    reference: chr 8
allele count: 1
allele frequency: 1.248938402357996e-5
allele num: 80068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1483C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.144C>T
  hgvsp: ENST00000487647.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.411C>T
  hgvsp: ENST00000484370.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-903C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7397C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+344C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+344C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile48Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-38286860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286860
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286860
    reference: chr 8
allele count: 1
allele frequency: 1.253918495297806e-5
allele num: 79750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1479C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.140C>T
  hgvsp: ENSP00000435254.1:p.Ser47Phe
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+340C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-907C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7401C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser47Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-38286875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286875
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286875
    reference: chr 8
allele count: 4
allele frequency: 5.295488244016098e-5
allele num: 75536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.125C>T
  hgvsp: ENSP00000435254.1:p.Ser42Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7416C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1464C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-922C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.392C>T
  hgvsp: ENSP00000433163.1:p.Ser131Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+325C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-922C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser131Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-38286884-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286884
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286884
    reference: chr 8
allele count: 1
allele frequency: 1.393223361569327e-5
allele num: 71776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7425A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.116A>G
  hgvsp: ENSP00000435254.1:p.Lys39Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.383A>G
  hgvsp: ENSP00000433163.1:p.Lys128Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1455A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+316A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-931A>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys128Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-38286892-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286892
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286892
    reference: chr 8
allele count: 1
allele frequency: 1.492403665343402e-5
allele num: 67006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.375G>C
  hgvsp: ENSP00000433163.1:p.Gln125His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.108G>C
  hgvsp: ENSP00000435254.1:p.Gln36His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+308G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1447G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7433G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-939G>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-939G>C
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln125His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

8-38286902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286902
    reference: chr 8
allele count: 114
allele frequency: 1.849568434032059e-3
allele num: 61636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.365C>T
  hgvsp: ENSP00000433163.1:p.Pro122Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.98C>T
  hgvsp: ENSP00000435254.1:p.Pro33Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1437C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-949C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+298C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7443C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro122Leu
num of homozygotes: 1
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

8-38286903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286903
    reference: chr 8
allele count: 1
allele frequency: 1.686113171916099e-5
allele num: 59308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.97C>T
  hgvsp: ENSP00000435254.1:p.Pro33Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1436C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.364C>T
  hgvsp: ENSP00000433163.1:p.Pro122Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+297C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-950C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+297C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro122Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

8-38286903-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286903
    reference: chr 8
allele count: 1
allele frequency: 1.686113171916099e-5
allele num: 59308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.364C>G
  hgvsp: ENSP00000433163.1:p.Pro122Ala
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.97C>G
  hgvsp: ENSP00000435254.1:p.Pro33Ala
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+297C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1436C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7444C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-950C>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro122Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

8-38286912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286912
    reference: chr 8
allele count: 1
allele frequency: 1.866159071399246e-5
allele num: 53586
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-4A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1427A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.359-4A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-959A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+288A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7453A>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.359-4A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

8-38286931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286931
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286931
    reference: chr 8
allele count: 1
allele frequency: 2.670940170940171e-5
allele num: 37440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1408C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+269C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-23C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-978C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.359-23C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7472C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-978C>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-38286944-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286944
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286944
    reference: chr 8
allele count: 1
allele frequency: 3.671341508187091e-5
allele num: 27238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7485G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1395G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-36G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+256G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.359-36G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-991G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-991G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-38286949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286949
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286949
    reference: chr 8
allele count: 1
allele frequency: 3.969199015638644e-5
allele num: 25194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.359-41C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7490C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-41C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1390C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-996C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-996C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-38286955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38286955
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38286955
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 23532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1384C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.359-47C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-47C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+245C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1002C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7496C>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

8-38287154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287154
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287154
    reference: chr 8
allele count: 1
allele frequency: 4.6988065031482e-5
allele num: 21282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.662T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1185T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7695T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+46T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1201T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+46T>C
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

8-38287175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287175
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287175
    reference: chr 8
allele count: 1
allele frequency: 4.445629945763315e-5
allele num: 22494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1164C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7716C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.641C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-267C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1222C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.358+25C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+25C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-38287184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287184
    reference: chr 8
allele count: 1
allele frequency: 4.298117424568039e-5
allele num: 23266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-276C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.358+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.358+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1155C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.632C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7725C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.130+16C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1231C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

8-38287189-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287189
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287189
    reference: chr 8
allele count: 9
allele frequency: 3.8164701891273e-4
allele num: 23582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.358+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.334+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.358+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.321+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.358+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.457+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.627A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7730A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1150A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-281A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.358+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.358+11A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1236A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1236A>G
  variant of: http://identifiers.org/hgnc/3688
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

8-38287208-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287208
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287208
    reference: chr 8
allele count: 1
allele frequency: 3.9488232506713e-5
allele num: 25324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.350A>G
  hgvsp: ENSP00000340636.5:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.326A>G
  hgvsp: ENSP00000337247.5:p.Asn109Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.350A>G
  hgvsp: ENSP00000433163.1:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7749A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.350A>G
  hgvsp: ENSP00000434712.1:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.449A>G
  hgvsp: ENSP00000393312.3:p.Asn150Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.608A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.350A>G
  hgvsp: ENSP00000380302.2:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.350A>G
  hgvsp: ENSP00000380297.4:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.350A>G
  hgvsp: ENSP00000432972.1:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.350A>G
  hgvsp: ENSP00000380280.5:p.Asn117Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.313A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1255A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1131A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.122A>G
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn150Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-38287212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287212
    reference: chr 8
allele count: 2
allele frequency: 7.788768595685022e-5
allele num: 25678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.322G>A
  hgvsp: ENSP00000337247.5:p.Val108Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.346G>A
  hgvsp: ENSP00000400162.2:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.346G>A
  hgvsp: ENSP00000434712.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.346G>A
  hgvsp: ENSP00000380297.4:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.445G>A
  hgvsp: ENSP00000393312.3:p.Val149Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1127G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.346G>A
  hgvsp: ENSP00000432972.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7753G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.346G>A
  hgvsp: ENSP00000380302.2:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.118G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.346G>A
  hgvsp: ENSP00000433163.1:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.346G>A
  hgvsp: ENSP00000380280.5:p.Val116Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.309G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1259G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1259G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val149Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

8-38287213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287213
    reference: chr 8
allele count: 214
allele frequency: 8.192955589586524e-3
allele num: 26120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.603C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7754C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.444C>T
  hgvsp: ENST00000425967.3:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.345C>T
  hgvsp: ENST00000341462.5:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.321C>T
  hgvsp: ENST00000335922.5:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.345C>T
  hgvsp: ENST00000525001.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1126C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.345C>T
  hgvsp: ENST00000447712.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.345C>T
  hgvsp: ENST00000484370.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.345C>T
  hgvsp: ENST00000397091.5:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.345C>T
  hgvsp: ENST00000532791.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1260C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.308C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-305C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser148Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-38287216-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287216
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287216
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 26576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.342C>T
  hgvsp: ENST00000525001.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.342C>T
  hgvsp: ENST00000447712.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.318C>T
  hgvsp: ENST00000335922.5:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.342C>T
  hgvsp: ENST00000341462.5:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.305C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.342C>T
  hgvsp: ENST00000397091.5:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.342C>T
  hgvsp: ENST00000397113.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1123C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.342C>T
  hgvsp: ENST00000397108.4:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.342C>T
  hgvsp: ENST00000484370.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1263C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.441C>T
  hgvsp: ENST00000425967.3:c.441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1263C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe147Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

8-38287222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287222
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287222
    reference: chr 8
allele count: 37
allele frequency: 1.35036496350365e-3
allele num: 27400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.336C>T
  hgvsp: ENST00000341462.5:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.336C>T
  hgvsp: ENST00000397108.4:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.336C>T
  hgvsp: ENST00000484370.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.594C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.299C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1117C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.336C>T
  hgvsp: ENST00000397091.5:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.435C>T
  hgvsp: ENST00000425967.3:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.336C>T
  hgvsp: ENST00000525001.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.336C>T
  hgvsp: ENST00000447712.2:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.336C>T
  hgvsp: ENST00000532791.1:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.312C>T
  hgvsp: ENST00000335922.5:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1269C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1269C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr145Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

8-38287225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287225
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287225
    reference: chr 8
allele count: 3
allele frequency: 1.077354018530489e-4
allele num: 27846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.333C>T
  hgvsp: ENST00000397108.4:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.105C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.333C>T
  hgvsp: ENST00000341462.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.333C>T
  hgvsp: ENST00000397113.2:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1272C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.333C>T
  hgvsp: ENST00000532791.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1272C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1272C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1114C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.333C>T
  hgvsp: ENST00000484370.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.333C>T
  hgvsp: ENST00000397091.5:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.309C>T
  hgvsp: ENST00000335922.5:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1272C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.296C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.333C>T
  hgvsp: ENST00000525001.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1272C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.432C>T
  hgvsp: ENST00000425967.3:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.591C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1272C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr144Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

8-38287226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287226
    reference: chr 8
allele count: 1
allele frequency: 3.566333808844508e-5
allele num: 28040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1113C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.332C>T
  hgvsp: ENSP00000400162.2:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.431C>T
  hgvsp: ENSP00000393312.3:p.Thr144Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.332C>T
  hgvsp: ENSP00000433163.1:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.332C>T
  hgvsp: ENSP00000432972.1:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.104C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.332C>T
  hgvsp: ENSP00000434712.1:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.332C>T
  hgvsp: ENSP00000380280.5:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.332C>T
  hgvsp: ENSP00000380302.2:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-318C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.295C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.332C>T
  hgvsp: ENSP00000380297.4:p.Thr111Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.590C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.308C>T
  hgvsp: ENSP00000337247.5:p.Thr103Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1273C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr144Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-38287237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287237
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287237
    reference: chr 8
allele count: 2
allele frequency: 6.670224119530417e-5
allele num: 29984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.321G>A
  hgvsp: ENST00000341462.5:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.321G>A
  hgvsp: ENST00000484370.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.579G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1284G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.297G>A
  hgvsp: ENST00000335922.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.321G>A
  hgvsp: ENST00000447712.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1284G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.284G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7778G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.93G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.321G>A
  hgvsp: ENST00000397113.2:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1284G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1284G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.321G>A
  hgvsp: ENST00000397091.5:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.420G>A
  hgvsp: ENST00000425967.3:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.321G>A
  hgvsp: ENST00000525001.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1102G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.321G>A
  hgvsp: ENST00000532791.1:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.321G>A
  hgvsp: ENST00000397108.4:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1284G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser140Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

8-38287238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287238
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287238
    reference: chr 8
allele count: 77
allele frequency: 2.525583836263448e-3
allele num: 30488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.320C>T
  hgvsp: ENSP00000380297.4:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.320C>T
  hgvsp: ENSP00000340636.5:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.320C>T
  hgvsp: ENSP00000400162.2:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.320C>T
  hgvsp: ENSP00000434712.1:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.320C>T
  hgvsp: ENSP00000433163.1:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1101C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.296C>T
  hgvsp: ENSP00000337247.5:p.Ser99Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1285C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1285C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.320C>T
  hgvsp: ENST00000413133.2:c.320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.578C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.320C>T
  hgvsp: ENSP00000432972.1:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.419C>T
  hgvsp: ENSP00000393312.3:p.Ser140Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1285C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.283C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.320C>T
  hgvsp: ENSP00000380302.2:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.320C>T
  hgvsp: ENSP00000380280.5:p.Ser107Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1285C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1285C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7779C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser140Leu
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

8-38287247-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287247
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287247
    reference: chr 8
allele count: 3
allele frequency: 9.159186664224217e-5
allele num: 32754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.569G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1294G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-339G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.311G>A
  hgvsp: ENSP00000400162.2:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1294G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.311G>A
  hgvsp: ENSP00000380297.4:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.311G>A
  hgvsp: ENSP00000380280.5:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1294G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7788G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.287G>A
  hgvsp: ENSP00000337247.5:p.Ser96Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1294G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.311G>A
  hgvsp: ENSP00000380302.2:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1092G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.410G>A
  hgvsp: ENSP00000393312.3:p.Ser137Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.311G>A
  hgvsp: ENSP00000434712.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1294G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.311G>A
  hgvsp: ENSP00000433163.1:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.274G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.311G>A
  hgvsp: ENSP00000400708.2:p.Ser104Asn
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1294G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser137Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

8-38287254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287254
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287254
    reference: chr 8
allele count: 30
allele frequency: 8.681560365783077e-4
allele num: 34556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.304G>A
  hgvsp: ENSP00000380302.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.304G>A
  hgvsp: ENSP00000380280.5:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1301G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.304G>A
  hgvsp: ENSP00000433163.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.304G>A
  hgvsp: ENSP00000340636.5:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1301G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.304G>A
  hgvsp: ENSP00000400708.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.267G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1085G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.304G>A
  hgvsp: ENSP00000380297.4:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1301G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.304G>A
  hgvsp: ENSP00000434712.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.304G>A
  hgvsp: ENSP00000432972.1:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.562G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.280G>A
  hgvsp: ENSP00000337247.5:p.Val94Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1301G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.304G>A
  hgvsp: ENSP00000400162.2:p.Val102Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.403G>A
  hgvsp: ENSP00000393312.3:p.Val135Ile
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-346G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1301G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val135Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

8-38287255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287255
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287255
    reference: chr 8
allele count: 6
allele frequency: 1.703964557537203e-4
allele num: 35212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-347C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.303C>T
  hgvsp: ENST00000447712.2:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.303C>T
  hgvsp: ENST00000413133.2:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.266C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.303C>T
  hgvsp: ENST00000397091.5:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.279C>T
  hgvsp: ENST00000335922.5:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.561C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7796C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.303C>T
  hgvsp: ENST00000341462.5:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.303C>T
  hgvsp: ENST00000397108.4:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1302C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1084C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.402C>T
  hgvsp: ENST00000425967.3:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.303C>T
  hgvsp: ENST00000532791.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys134Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

8-38287261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287261
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287261
    reference: chr 8
allele count: 2
allele frequency: 5.257070760172432e-5
allele num: 38044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.297T>C
  hgvsp: ENST00000532791.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1308T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.297T>C
  hgvsp: ENST00000525001.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1308T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.297T>C
  hgvsp: ENST00000341462.5:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.297T>C
  hgvsp: ENST00000397091.5:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1308T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.297T>C
  hgvsp: ENST00000413133.2:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.273T>C
  hgvsp: ENST00000335922.5:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1308T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.297T>C
  hgvsp: ENST00000447712.2:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.297T>C
  hgvsp: ENST00000397108.4:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1078T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.260T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.69T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.555T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.297T>C
  hgvsp: ENST00000397113.2:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1308T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7802T>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1308T>C
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr132Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

8-38287270-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287270
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287270
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 42116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7811C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.546C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.288C>T
  hgvsp: ENST00000397091.5:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.288C>T
  hgvsp: ENST00000413133.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.288C>T
  hgvsp: ENST00000532791.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.288C>T
  hgvsp: ENST00000447712.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.288C>T
  hgvsp: ENST00000341462.5:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.288C>T
  hgvsp: ENST00000484370.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.288C>T
  hgvsp: ENST00000397113.2:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1317C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.264C>T
  hgvsp: ENST00000335922.5:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.251C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.288C>T
  hgvsp: ENST00000525001.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.288C>T
  hgvsp: ENST00000397108.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser129Ser
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-38287276-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287276
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287276
    reference: chr 8
allele count: 1
allele frequency: 2.130469981677958e-5
allele num: 46938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.282A>C
  hgvsp: ENST00000341462.5:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.282A>C
  hgvsp: ENST00000484370.1:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1323A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.282A>C
  hgvsp: ENST00000532791.1:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.282A>C
  hgvsp: ENST00000397108.4:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1063A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.245A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.381A>C
  hgvsp: ENST00000425967.3:c.381A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.282A>C
  hgvsp: ENST00000447712.2:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.282A>C
  hgvsp: ENST00000525001.1:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1323A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1323A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7817A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1323A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.282A>C
  hgvsp: ENST00000397091.5:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.282A>C
  hgvsp: ENST00000397113.2:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.282A>C
  hgvsp: ENST00000413133.2:c.282A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.258A>C
  hgvsp: ENST00000335922.5:c.258A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.540A>C
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1323A>C
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala127Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/8-38287278-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287278
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287278
    reference: chr 8
allele count: 1
allele frequency: 2.073226354853423e-5
allele num: 48234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.280G>T
  hgvsp: ENSP00000400708.2:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.280G>T
  hgvsp: ENSP00000380302.2:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1325G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.280G>T
  hgvsp: ENSP00000340636.5:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.256G>T
  hgvsp: ENSP00000337247.5:p.Ala86Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.280G>T
  hgvsp: ENSP00000380280.5:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1325G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.280G>T
  hgvsp: ENSP00000432972.1:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.243G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-370G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.280G>T
  hgvsp: ENSP00000380297.4:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.52G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.379G>T
  hgvsp: ENSP00000393312.3:p.Ala127Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1061G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.280G>T
  hgvsp: ENSP00000434712.1:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1325G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1325G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.538G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.280G>T
  hgvsp: ENSP00000400162.2:p.Ala94Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7819G>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala127Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

8-38287278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287278
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287278
    reference: chr 8
allele count: 3
allele frequency: 6.219679064560268e-5
allele num: 48234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.280G>A
  hgvsp: ENSP00000400708.2:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.280G>A
  hgvsp: ENSP00000434712.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7819G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-370G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.280G>A
  hgvsp: ENSP00000380302.2:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.538G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1325G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1325G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1061G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1325G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.280G>A
  hgvsp: ENSP00000380297.4:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.280G>A
  hgvsp: ENSP00000433163.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.379G>A
  hgvsp: ENSP00000393312.3:p.Ala127Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1325G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.280G>A
  hgvsp: ENSP00000380280.5:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.280G>A
  hgvsp: ENSP00000400162.2:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.280G>A
  hgvsp: ENSP00000340636.5:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1325G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.52G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.256G>A
  hgvsp: ENSP00000337247.5:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala127Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-38287279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287279
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287279
    reference: chr 8
allele count: 1
allele frequency: 1.969124133585381e-5
allele num: 50784
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.537C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.279C>T
  hgvsp: ENST00000341462.5:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.279C>T
  hgvsp: ENST00000397113.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.242C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.279C>T
  hgvsp: ENST00000397108.4:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.279C>T
  hgvsp: ENST00000447712.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.279C>T
  hgvsp: ENST00000525001.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1060C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1326C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.279C>T
  hgvsp: ENST00000397091.5:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.378C>T
  hgvsp: ENST00000425967.3:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.279C>T
  hgvsp: ENST00000532791.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7820C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.279C>T
  hgvsp: ENST00000484370.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro126Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-38287281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287281
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287281
    reference: chr 8
allele count: 1
allele frequency: 1.874906254687266e-5
allele num: 53336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.240C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.277C>T
  hgvsp: ENSP00000400162.2:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.277C>T
  hgvsp: ENSP00000433163.1:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.277C>T
  hgvsp: ENSP00000380297.4:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.535C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.277C>T
  hgvsp: ENSP00000380280.5:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.253C>T
  hgvsp: ENSP00000337247.5:p.Pro85Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.277C>T
  hgvsp: ENSP00000340636.5:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.49C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.277C>T
  hgvsp: ENSP00000380302.2:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.277C>T
  hgvsp: ENSP00000434712.1:p.Pro93Ser
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1328C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro126Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

8-38287284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287284
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287284
    reference: chr 8
allele count: 6
allele frequency: 1.042716624378715e-4
allele num: 57542
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.274G>A
  hgvsp: ENSP00000340636.5:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.274G>A
  hgvsp: ENSP00000434712.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.274G>A
  hgvsp: ENSP00000400162.2:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1055G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7825G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.250G>A
  hgvsp: ENSP00000337247.5:p.Val84Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.46G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.274G>A
  hgvsp: ENSP00000380302.2:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.373G>A
  hgvsp: ENSP00000393312.3:p.Val125Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.532G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.274G>A
  hgvsp: ENSP00000400708.2:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.274G>A
  hgvsp: ENSP00000432972.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.274G>A
  hgvsp: ENSP00000380280.5:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1331G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.274G>A
  hgvsp: ENSP00000380297.4:p.Val92Met
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val125Met
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-38287285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287285
    reference: chr 8
allele count: 8
allele frequency: 1.33538091740669e-4
allele num: 59908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.372C>T
  hgvsp: ENST00000425967.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7826C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.273C>T
  hgvsp: ENST00000397113.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-377C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.273C>T
  hgvsp: ENST00000397108.4:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1332C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1054C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.273C>T
  hgvsp: ENST00000341462.5:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.273C>T
  hgvsp: ENST00000532791.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.273C>T
  hgvsp: ENST00000397091.5:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.273C>T
  hgvsp: ENST00000525001.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1332C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.236C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1332C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.531C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.273C>T
  hgvsp: ENST00000447712.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.273C>T
  hgvsp: ENST00000484370.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.249C>T
  hgvsp: ENST00000335922.5:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1332C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.273C>T
  hgvsp: ENST00000413133.2:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser124Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

8-38287285-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287285
    reference: chr 8
allele count: 1
allele frequency: 1.669226146758363e-5
allele num: 59908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.372C>A
  hgvsp: ENST00000425967.3:c.372C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.273C>A
  hgvsp: ENST00000397113.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.531C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1054C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.273C>A
  hgvsp: ENST00000397108.4:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7826C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.273C>A
  hgvsp: ENST00000484370.1:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.249C>A
  hgvsp: ENST00000335922.5:c.249C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.273C>A
  hgvsp: ENST00000447712.2:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.273C>A
  hgvsp: ENST00000397091.5:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.273C>A
  hgvsp: ENST00000341462.5:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.273C>A
  hgvsp: ENST00000525001.1:c.273C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1332C>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.236C>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser124Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/8-38287290-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287290
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287290
    reference: chr 8
allele count: 4
allele frequency: 5.944596361907026e-5
allele num: 67288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.268G>T
  hgvsp: ENSP00000400162.2:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.268G>T
  hgvsp: ENSP00000434712.1:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.367G>T
  hgvsp: ENSP00000393312.3:p.Asp123Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7831G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.40G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.268G>T
  hgvsp: ENSP00000380280.5:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.244G>T
  hgvsp: ENSP00000337247.5:p.Asp82Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.231G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.268G>T
  hgvsp: ENSP00000380302.2:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.268G>T
  hgvsp: ENSP00000380297.4:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.268G>T
  hgvsp: ENSP00000432972.1:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.268G>T
  hgvsp: ENSP00000433163.1:p.Asp90Tyr
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1337G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1337G>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp123Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-38287292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287292
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287292
    reference: chr 8
allele count: 4
allele frequency: 5.687149884835215e-5
allele num: 70334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.266A>G
  hgvsp: ENSP00000380280.5:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.38A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7833A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.266A>G
  hgvsp: ENSP00000400162.2:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.365A>G
  hgvsp: ENSP00000393312.3:p.Gln122Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.266A>G
  hgvsp: ENSP00000400708.2:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.242A>G
  hgvsp: ENSP00000337247.5:p.Gln81Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.266A>G
  hgvsp: ENSP00000340636.5:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.266A>G
  hgvsp: ENSP00000432972.1:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.266A>G
  hgvsp: ENSP00000380302.2:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.229A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.266A>G
  hgvsp: ENSP00000433163.1:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.266A>G
  hgvsp: ENSP00000380297.4:p.Gln89Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1339A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1047A>G
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln122Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-38287294-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287294
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287294
    reference: chr 8
allele count: 1
allele frequency: 1.373286824686204e-5
allele num: 72818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1045G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.264G>T
  hgvsp: ENST00000397091.5:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.240G>T
  hgvsp: ENST00000335922.5:c.240G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.264G>T
  hgvsp: ENST00000484370.1:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.522G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.264G>T
  hgvsp: ENST00000525001.1:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.363G>T
  hgvsp: ENST00000425967.3:c.363G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.36G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.264G>T
  hgvsp: ENST00000447712.2:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.264G>T
  hgvsp: ENST00000397113.2:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.264G>T
  hgvsp: ENST00000397108.4:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1341G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.264G>T
  hgvsp: ENST00000413133.2:c.264G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val121Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-38287296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287296
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287296
    reference: chr 8
allele count: 2
allele frequency: 2.6542800265428e-5
allele num: 75350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.262G>T
  hgvsp: ENSP00000380297.4:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1043G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.238G>T
  hgvsp: ENSP00000337247.5:p.Val80Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.262G>T
  hgvsp: ENSP00000380280.5:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.262G>T
  hgvsp: ENSP00000340636.5:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.262G>T
  hgvsp: ENSP00000400708.2:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.262G>T
  hgvsp: ENSP00000400162.2:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.262G>T
  hgvsp: ENSP00000432972.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.262G>T
  hgvsp: ENSP00000380302.2:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.520G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.262G>T
  hgvsp: ENSP00000434712.1:p.Val88Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.361G>T
  hgvsp: ENSP00000393312.3:p.Val121Leu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1343G>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1343G>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val121Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-38287310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287310
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287310
    reference: chr 8
allele count: 1
allele frequency: 1.079447322970639e-5
allele num: 92640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.248G>A
  hgvsp: ENSP00000400162.2:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.224G>A
  hgvsp: ENSP00000337247.5:p.Gly75Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.506G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.248G>A
  hgvsp: ENSP00000380302.2:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7851G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.248G>A
  hgvsp: ENSP00000380280.5:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.248G>A
  hgvsp: ENSP00000380297.4:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.248G>A
  hgvsp: ENSP00000434712.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.248G>A
  hgvsp: ENSP00000432972.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.211G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.347G>A
  hgvsp: ENSP00000393312.3:p.Gly116Glu
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1357G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.248G>A
  hgvsp: ENSP00000340636.5:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly116Glu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-38287313-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287313
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287313
    reference: chr 8
allele count: 2
allele frequency: 2.091568885821255e-5
allele num: 95622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.245C>G
  hgvsp: ENSP00000380280.5:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.503C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1026C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.245C>G
  hgvsp: ENSP00000400162.2:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7854C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.208C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.245C>G
  hgvsp: ENSP00000380297.4:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.245C>G
  hgvsp: ENSP00000400708.2:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-405C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.344C>G
  hgvsp: ENSP00000393312.3:p.Thr115Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.245C>G
  hgvsp: ENSP00000380302.2:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.245C>G
  hgvsp: ENSP00000432972.1:p.Thr82Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.221C>G
  hgvsp: ENSP00000337247.5:p.Thr74Arg
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1360C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1360C>G
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr115Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-38287315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287315
    reference: chr 8
allele count: 1
allele frequency: 1.02555687738442e-5
allele num: 97508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.243C>T
  hgvsp: ENST00000341462.5:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.243C>T
  hgvsp: ENST00000413133.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.206C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.243C>T
  hgvsp: ENST00000484370.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.243C>T
  hgvsp: ENST00000397091.5:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.243C>T
  hgvsp: ENST00000447712.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.219C>T
  hgvsp: ENST00000335922.5:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.342C>T
  hgvsp: ENST00000425967.3:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.243C>T
  hgvsp: ENST00000397108.4:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.243C>T
  hgvsp: ENST00000397113.2:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.501C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1362C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.15C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.243C>T
  hgvsp: ENST00000532791.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile114Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

8-38287317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287317
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287317
    reference: chr 8
allele count: 17
allele frequency: 1.711845974141056e-4
allele num: 99308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.241A>G
  hgvsp: ENSP00000400708.2:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-409A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.13A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.241A>G
  hgvsp: ENSP00000432972.1:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.241A>G
  hgvsp: ENSP00000380280.5:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.241A>G
  hgvsp: ENSP00000433163.1:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.241A>G
  hgvsp: ENSP00000400162.2:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.241A>G
  hgvsp: ENSP00000380302.2:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.217A>G
  hgvsp: ENSP00000337247.5:p.Ile73Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.241A>G
  hgvsp: ENSP00000380297.4:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.340A>G
  hgvsp: ENSP00000393312.3:p.Ile114Val
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1022A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1364A>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.241A>G
  hgvsp: ENSP00000434712.1:p.Ile81Val
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile114Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

8-38287318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287318
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287318
    reference: chr 8
allele count: 1
allele frequency: 9.998200323941691e-6
allele num: 100018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.240C>T
  hgvsp: ENST00000341462.5:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-410C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.240C>T
  hgvsp: ENST00000397091.5:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.240C>T
  hgvsp: ENST00000397108.4:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.240C>T
  hgvsp: ENST00000447712.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.203C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7859C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1021C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.339C>T
  hgvsp: ENST00000425967.3:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.240C>T
  hgvsp: ENST00000525001.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.240C>T
  hgvsp: ENST00000397113.2:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.216C>T
  hgvsp: ENST00000335922.5:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1365C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.12C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1365C>T
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg113Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

8-38287319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287319
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287319
    reference: chr 8
allele count: 3
allele frequency: 2.980744391232637e-5
allele num: 100646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7860G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.239G>A
  hgvsp: ENSP00000433163.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.239G>A
  hgvsp: ENSP00000380280.5:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.497G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1020G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.239G>A
  hgvsp: ENSP00000380297.4:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.239G>A
  hgvsp: ENSP00000400708.2:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.239G>A
  hgvsp: ENSP00000432972.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.239G>A
  hgvsp: ENSP00000340636.5:p.Arg80His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434473
  ensembl transcript: ENST00000530568
  gene symbol: FGFR1
  hgvsc: ENST00000530568.1:c.92-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.215G>A
  hgvsp: ENSP00000337247.5:p.Arg72His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1366G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.11G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.202G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg113His
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

8-38287320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287320
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287320
    reference: chr 8
allele count: 1
allele frequency: 9.791825783835655e-6
allele num: 102126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.10C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.238C>T
  hgvsp: ENSP00000432972.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.238C>T
  hgvsp: ENSP00000380297.4:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-412C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.238C>T
  hgvsp: ENSP00000400162.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434869
  ensembl transcript: ENST00000533668
  gene symbol: FGFR1
  hgvsc: ENST00000533668.1:c.-116-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7861C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.238C>T
  hgvsp: ENSP00000433163.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.238C>T
  hgvsp: ENSP00000380302.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.238C>T
  hgvsp: ENSP00000434712.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.214C>T
  hgvsp: ENSP00000337247.5:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.238C>T
  hgvsp: ENSP00000400708.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1367C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.238C>T
  hgvsp: ENSP00000340636.5:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.496C>T
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.238C>T
  hgvsp: ENSP00000380280.5:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg113Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-38287325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287325
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287325
    reference: chr 8
allele count: 1
allele frequency: 9.48640598023033e-6
allele num: 105414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000327229
  ensembl transcript: ENST00000326324
  gene symbol: FGFR1
  hgvsc: ENST00000326324.6:c.92-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000393312
  ensembl transcript: ENST00000425967
  gene symbol: FGFR1
  hgvsc: ENST00000425967.3:c.332G>A
  hgvsp: ENSP00000393312.3:p.Arg111His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.233G>A
  hgvsp: ENSP00000400162.2:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.491G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435283
  ensembl transcript: ENST00000529552
  gene symbol: FGFR1
  hgvsc: ENST00000529552.1:c.92-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.5G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.233G>A
  hgvsp: ENSP00000400708.2:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1014G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.233G>A
  hgvsp: ENSP00000380302.2:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.196G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.233G>A
  hgvsp: ENSP00000434712.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.233G>A
  hgvsp: ENSP00000380297.4:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380280
  ensembl transcript: ENST00000397091
  gene symbol: FGFR1
  hgvsc: ENST00000397091.5:c.233G>A
  hgvsp: ENSP00000380280.5:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000496296
  gene symbol: FGFR1
  hgvsc: ENST00000496296.1:n.835-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380292
  ensembl transcript: ENST00000397103
  gene symbol: FGFR1
  hgvsc: ENST00000397103.1:c.92-1372G>A
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.233G>A
  hgvsp: ENSP00000340636.5:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.233G>A
  hgvsp: ENSP00000432972.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1372G>A
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg111His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

8-38287327-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38287327
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 38287327
    reference: chr 8
allele count: 22
allele frequency: 2.05772864171203e-4
allele num: 106914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400708
  ensembl transcript: ENST00000413133
  gene symbol: FGFR1
  hgvsc: ENST00000413133.2:c.231C>G
  hgvsp: ENSP00000400708.2:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000337247
  ensembl transcript: ENST00000335922
  gene symbol: FGFR1
  hgvsc: ENST00000335922.5:c.207C>G
  hgvsp: ENSP00000337247.5:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000474970
  gene symbol: FGFR1
  hgvsc: ENST00000474970.1:n.3C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000392645
  ensembl transcript: ENST00000434187
  gene symbol: FGFR1
  hgvsc: ENST00000434187.1:c.92-1374C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000397090
  gene symbol: FGFR1
  hgvsc: ENST00000397090.4:n.489C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000530701
  gene symbol: FGFR1
  hgvsc: ENST00000530701.1:n.178-7868C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000435254
  ensembl transcript: ENST00000487647
  gene symbol: FGFR1
  hgvsc: ENST00000487647.1:c.92-419C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000432972
  ensembl transcript: ENST00000532791
  gene symbol: FGFR1
  hgvsc: ENST00000532791.1:c.231C>G
  hgvsp: ENSP00000432972.1:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000526570
  gene symbol: FGFR1
  hgvsc: ENST00000526570.1:n.1012C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380297
  ensembl transcript: ENST00000397108
  gene symbol: FGFR1
  hgvsc: ENST00000397108.4:c.231C>G
  hgvsp: ENSP00000380297.4:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000380302
  ensembl transcript: ENST00000397113
  gene symbol: FGFR1
  hgvsc: ENST00000397113.2:c.231C>G
  hgvsp: ENSP00000380302.2:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000400162
  ensembl transcript: ENST00000447712
  gene symbol: FGFR1
  hgvsc: ENST00000447712.2:c.231C>G
  hgvsp: ENSP00000400162.2:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000527203
  gene symbol: FGFR1
  hgvsc: ENST00000527203.1:n.122-1374C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000532386
  gene symbol: FGFR1
  hgvsc: ENST00000532386.1:n.194C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000434712
  ensembl transcript: ENST00000525001
  gene symbol: FGFR1
  hgvsc: ENST00000525001.1:c.231C>G
  hgvsp: ENSP00000434712.1:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433163
  ensembl transcript: ENST00000484370
  gene symbol: FGFR1
  hgvsc: ENST00000484370.1:c.231C>G
  hgvsp: ENSP00000433163.1:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000433569
  ensembl transcript: ENST00000526742
  gene symbol: FGFR1
  hgvsc: ENST00000526742.1:c.92-1374C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000340636
  ensembl transcript: ENST00000341462
  gene symbol: FGFR1
  hgvsc: ENST00000341462.5:c.231C>G
  hgvsp: ENSP00000340636.5:p.Asn77Lys
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl transcript: ENST00000470826
  gene symbol: FGFR1
  hgvsc: ENST00000470826.1:n.508-1374C>G
  variant of: http://identifiers.org/hgnc/3688
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000077782
  ensembl protein: ENSP00000348537
  ensembl transcript: ENST00000356207
  gene symbol: FGFR1
  hgvsc: ENST00000356207.5:c.92-1374C>G
  variant of: http://identifiers.org/hgnc/3688
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Asn110Lys
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+370C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-877C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+370C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-877C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.321+370C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 242
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1706
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5039
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19996
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8214
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2847
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 17752
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 109
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 122
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20179
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2035
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3396
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 3.108348134991119e-3
allele num: 6756
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.635590448151783e-4
allele num: 6114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.040848e6

QD
type: SiteQuality
SIO_000300: 1.162e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

FS
type: SiteQuality
SIO_000300: 2.614e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-885A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.358+362A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-885A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.358+362A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-885A>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20684
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1936
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18904
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5302
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7193
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.466279589102278e-5
allele num: 44780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

DP
type: SiteQuality
SIO_000300: 1.075404e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.358+346C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-901C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7395C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.358+346C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-901C>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1095
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1793
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 20778
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 18591
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1758
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7034
bin: 1.25e1
variant carriers: 7

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

GenotypeDepth
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1770
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 521
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 850
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23333
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 1.803968731208659e-3
allele num: 6652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.850340738118418e-5
allele num: 45196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.433897332950961e-4
allele num: 6974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

DP
type: SiteQuality
SIO_000300: 1.089336e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-902A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-902A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.321+345A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.358+345A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+345A>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 20777
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1825
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18482
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1758
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5919
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7057
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 684
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23413
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5814
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.211313077705541e-5
allele num: 45222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.289e-1

DP
type: SiteQuality
SIO_000300: 1.090998e6

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-903C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.130+344C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.321+344C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-903C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-903C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 5896
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7086
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18575
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1086
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 20699
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1768
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1790
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6988
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.089606e6

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.48e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-907C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-907C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.407C>T
hgvsp: ENSP00000433163.1:p.Ser136Phe
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380280
ensembl transcript: ENST00000397091
gene symbol: FGFR1
hgvsc: ENST00000397091.5:c.358+340C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-907C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 7184
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20531
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5940
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1660
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18721
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1756
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.813678829543451e-5
allele num: 11346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44954
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.082e0

FS
type: SiteQuality
SIO_000300: 1.453e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 1.087604e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-922C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.457+325C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-922C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-922C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.358+325C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5940
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16253
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20482
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1727
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9386
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1385
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1758
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 631
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1373
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 6.555227794165847e-4
allele num: 6102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.03767e6

VQSLOD
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.227e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+316A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.358+316A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-931A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.457+316A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+316A>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1836
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12565
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1687
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1751
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21985
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5596
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11520
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16296
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.493268175925002e-5
allele num: 40108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10924
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.84046e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.986e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.17e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-939G>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.358+308G>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.321+308G>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-939G>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.130+308G>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13806
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8476
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1663
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23283
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4978
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1953
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2780
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1607
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1753
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.69323996768112e-5
allele num: 37130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.20344e5

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-949C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-949C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+298C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-949C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-949C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 24077
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4496
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1945
bin: 1.75e1
variant carriers: 22

GenotypeDepth
all individuals: 15512
bin: 1.25e1
variant carriers: 36

GenotypeDepth
all individuals: 4112
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 5152
bin: 2.25e1
variant carriers: 15

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 9.75e1
variant carriers: 24

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1620
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 239
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1753
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4756
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 485
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8300
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1586
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1827
bin: 9.75e1
variant carriers: 103

GenotypeQuality
all individuals: 35032
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4248
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.25531914893617e-3
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33780
num of homozygotes: 0

African
type: Population
allele count: 109
allele frequency: 1.879958606416006e-2
allele num: 5798
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 6.640106241699867e-4
allele num: 4518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2546
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 8.54616e5

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 6.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.439e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-950C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-950C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7444C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+297C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-950C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15547
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5372
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24236
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5671
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.084967320261438e-4
allele num: 2448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2854e1

DP
type: SiteQuality
SIO_000300: 8.30464e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.781e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 1.118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.358+297C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-950C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-950C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.321+297C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+297C>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5372
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1939
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15547
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24236
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5671
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1732
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.788908765652952e-4
allele num: 5590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

FS
type: SiteQuality
SIO_000300: 1.2854e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.781e0

DP
type: SiteQuality
SIO_000300: 8.30464e5

QD
type: SiteQuality
SIO_000300: 1.118e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+288A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.457+288A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+288A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-959A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-959A>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 3298
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1526
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24510
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14700
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3324
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8051
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1449
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8513
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5861
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1737
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.805836139169473e-4
allele num: 3564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.232e0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 7.81533e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

QD
type: SiteQuality
SIO_000300: 1.057e1

FS
type: SiteQuality
SIO_000300: 5.076e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-978C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-978C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-978C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-978C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.457+269C>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1417
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9555
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2730
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18902
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21206
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20049
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 894
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1076
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 5.257623554153522e-4
allele num: 1902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.787e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.56529e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.69e-2

QD
type: SiteQuality
SIO_000300: 3.86e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+256G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380280
ensembl transcript: ENST00000397091
gene symbol: FGFR1
hgvsc: ENST00000397091.5:c.358+256G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-991G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-991G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-991G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1292
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4929
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1388
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 397
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2305
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23653
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20663
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 588
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 837
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.674597083653108e-5
allele num: 13030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: -8.704e-1

DP
type: SiteQuality
SIO_000300: 5.81893e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+251C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-996C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-996C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+251C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.358+251C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1477
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2044
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23865
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1296
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3837
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21173
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6291
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9530
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.539709649871905e-5
allele num: 11710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2984
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.63712e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.935e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1002C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.358+245C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+245C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1002C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.358+245C>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 23819
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3093
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1257
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1775
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1868
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21527
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24096
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5292
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.41e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

QD
type: SiteQuality
SIO_000300: 7.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.55306e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-246T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1201T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+46T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.358+46T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1201T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1201T>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 999
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14930
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2480
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1784
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31455
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2738
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6065
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7684
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24008
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4884
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.043623460655395e-4
allele num: 9582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.32e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 6.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 6.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.673e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 4.17562e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1222C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1222C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+25C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.334+25C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.358+25C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1222C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2143
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4407
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27707
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19437
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24538
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2997
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1812
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.72168e5

VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 7.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1231C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1231C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.358+16C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.358+16C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.358+16C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380280
ensembl transcript: ENST00000397091
gene symbol: FGFR1
hgvsc: ENST00000397091.5:c.358+16C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 414
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2970
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25364
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1101
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4799
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21921
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1950
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 23294
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2690
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.43040362127499e-5
allele num: 10604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 2.439e1

DP
type: SiteQuality
SIO_000300: 4.96524e5

VQSLOD
type: SiteQuality
SIO_000300: -2.429e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

FS
type: SiteQuality
SIO_000300: 2.017e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.358+11A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.130+11A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1236A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.358+11A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1236A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.358+11A>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 3071
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24083
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23274
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1901
bin: 1.25e1
variant carriers: 7

GenotypeDepth
all individuals: 191
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4926
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19096
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 22402
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 7092
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 336
bin: 7.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 8.350343291890889e-4
allele num: 10778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 5.0734e5

VQSLOD
type: SiteQuality
SIO_000300: -2.262e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 7.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.350A>G
hgvsp: ENSP00000400162.2:p.Asn117Ser
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1255A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1255A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1255A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-300A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1255A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1255A>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 229
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27903
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1147
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2370
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5081
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19164
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3326
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18483
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 546
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.223e-1

DP
type: SiteQuality
SIO_000300: 5.46555e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.317e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.346G>A
hgvsp: ENSP00000340636.5:p.Val116Ile
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.604G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-304G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1259G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1259G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1259G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1259G>A
variant of: http://identifiers.org/hgnc/3688

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

GenotypeDepth
all individuals: 18154
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2586
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5086
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28676
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1164
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17595
bin: 7.5e0
variant carriers: 1

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

GenotypeQuality
all individuals: 1384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7529
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 171
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265182186234818e-4
allele num: 7904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.364001338240214e-5
allele num: 11956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.13e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

DP
type: SiteQuality
SIO_000300: 5.54847e5

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.345C>T
hgvsp: ENST00000397113.2:c.345C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1260C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.117C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1260C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380297
ensembl transcript: ENST00000397108
gene symbol: FGFR1
hgvsc: ENST00000397108.4:c.345C>T
hgvsp: ENST00000397108.4:c.345C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1260C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1260C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 424
bin: 3.75e1
variant carriers: 10

GenotypeDepth
all individuals: 317
bin: 1.75e1
variant carriers: 21

GenotypeDepth
all individuals: 2791
bin: 1.25e1
variant carriers: 114

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 28860
bin: 7.5e0
variant carriers: 207

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 58
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 17703
bin: 2.5e0
variant carriers: 22

GenotypeDepth
all individuals: 5057
bin: 2.25e1
variant carriers: 9

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 24
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3363
bin: 2.75e1
variant carriers: 6

GenotypeDepth
all individuals: 1167
bin: 3.25e1
variant carriers: 12

GenotypeDepth
all individuals: 7
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 1395
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 23375
bin: 2.25e1
variant carriers: 13

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2375
bin: 1.25e1
variant carriers: 10

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1272
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 902
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 590
bin: 3.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3503
bin: 1.75e1
variant carriers: 13

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 12

GenotypeQuality
all individuals: 393
bin: 9.75e1
variant carriers: 229

GenotypeQuality
all individuals: 7525
bin: 6.25e1
variant carriers: 15

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 362
bin: 7.75e1
variant carriers: 21

GenotypeQuality
all individuals: 17064
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 23
allele frequency: 6.686046511627906e-2
allele num: 344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.293577981651376e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 156
allele frequency: 1.271808250448394e-2
allele num: 12266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1138
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.385211687537269e-3
allele num: 3354
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 3.156565656565657e-3
allele num: 7920
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

DP
type: SiteQuality
SIO_000300: 5.60086e5

QD
type: SiteQuality
SIO_000300: 1.312e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.342C>T
hgvsp: ENST00000532791.1:c.342C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.114C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7757C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1263C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-308C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.600C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1263C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 29334
bin: 7.5e0
variant carriers: 3

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17249
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5072
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3412
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2862
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1169
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16690
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 5.61176e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

FS
type: SiteQuality
SIO_000300: 3.49e0

QD
type: SiteQuality
SIO_000300: 9.73e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7763C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1269C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.108C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1269C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.336C>T
hgvsp: ENST00000397113.2:c.336C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-314C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1269C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 3434
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3178
bin: 1.25e1
variant carriers: 15

GenotypeDepth
all individuals: 15771
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5124
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30482
bin: 7.5e0
variant carriers: 18

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

GenotypeDepth
all individuals: 1179
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 414
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 321
bin: 1.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 203
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 1115
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 765
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15358
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25564
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 36
allele frequency: 1.046511627906977e-2
allele num: 3440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.68403258029814e-5
allele num: 13014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 5.73831e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.333C>T
hgvsp: ENST00000447712.2:c.333C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7766C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1272C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1272C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1272C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1272C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1272C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 5122
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30944
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 15110
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3364
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 419
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1181
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3465
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7701
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 820
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25981
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14767
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13298
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.705533596837944e-4
allele num: 8096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.201e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

FS
type: SiteQuality
SIO_000300: 1.4021e1

DP
type: SiteQuality
SIO_000300: 5.7788e5

VQSLOD
type: SiteQuality
SIO_000300: -1.555e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1273C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1273C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1273C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1273C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7767C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.332C>T
hgvsp: ENSP00000340636.5:p.Thr111Ile
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1273C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5141
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31045
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3465
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1182
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14985
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3374
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 845
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14638
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25939
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.464914899970141e-5
allele num: 13396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.624e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 5.78665e5

VQSLOD
type: SiteQuality
SIO_000300: -1.369e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-329G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1284G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1284G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1284G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1284G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1284G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1284G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4300
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3573
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 519
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5128
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12462
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32487
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12279
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1284
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 6.830601092896175e-4
allele num: 1464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.754820936639118e-4
allele num: 3630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.01489e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e0

QD
type: SiteQuality
SIO_000300: 2.577e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1285C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1285C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-330C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1285C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1285C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1285C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.92C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1285C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 32751
bin: 7.5e0
variant carriers: 57

GenotypeDepth
all individuals: 12005
bin: 2.5e0
variant carriers: 4

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 420
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5159
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 7
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 526
bin: 1.75e1
variant carriers: 17

GenotypeDepth
all individuals: 4465
bin: 1.25e1
variant carriers: 41

GenotypeDepth
all individuals: 3581
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1203
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3203
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7846
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 28213
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1111
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2371
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 813
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 361
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 11890
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 236
bin: 9.75e1
variant carriers: 78

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 7

East Asian
type: Population
allele count: 72
allele frequency: 4.539722572509458e-2
allele num: 1586
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.76773145641581e-5
allele num: 14776
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.470459518599562e-4
allele num: 3656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.392916965781287e-4
allele num: 8358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 6.0669e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.311G>A
hgvsp: ENSP00000340636.5:p.Ser104Asn
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.311G>A
hgvsp: ENSP00000432972.1:p.Ser104Asn
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1294G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1294G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1294G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1294G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.83G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1294G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5317
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9779
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3653
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5188
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33930
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30087
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9802
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.48594004183128e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

MQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.27556e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.76G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1301G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7795G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 5712
bin: 1.25e1
variant carriers: 15

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1225
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7998
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5673
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 175
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34709
bin: 7.5e0
variant carriers: 12

GenotypeDepth
all individuals: 3688
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 428
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8364
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2567
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8090
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1815
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31636
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 356
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1581
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 15
allele frequency: 7.64525993883792e-3
allele num: 1962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.683501683501683e-3
allele num: 1782
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.277385561375541e-4
allele num: 8782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 5.838393274170948e-4
allele num: 17128
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.092e0

FS
type: SiteQuality
SIO_000300: 1.787e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.48344e5

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.303C>T
hgvsp: ENST00000525001.1:c.303C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.75C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1302C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.303C>T
hgvsp: ENST00000484370.1:c.303C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1302C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1302C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1302C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.303C>T
hgvsp: ENST00000397113.2:c.303C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5763
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5855
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 884
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7658
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 34751
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32029
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 5.055611729019212e-4
allele num: 3956
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.405405405405405e-4
allele num: 1850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.714938850154303e-5
allele num: 17498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.131733816206428e-4
allele num: 8836
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.496503496503497e-3
allele num: 286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.52782e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.396T>C
hgvsp: ENST00000425967.3:c.396T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1308T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1308T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-353T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.297T>C
hgvsp: ENST00000484370.1:c.297T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1308T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1308T>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1308T>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34992
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6213
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6183
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3766
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6386
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1837
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8872
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32921
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.4330900243309e-4
allele num: 4110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.106439477760567e-4
allele num: 9038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2216
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

QD
type: SiteQuality
SIO_000300: 9.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

DP
type: SiteQuality
SIO_000300: 6.73049e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000526570
gene symbol: FGFR1
hgvsc: ENST00000526570.1:n.1069C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1317C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-362C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1317C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1317C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1317C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.387C>T
hgvsp: ENST00000425967.3:c.387C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.60C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 7219
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1567
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4206
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34601
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3892
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7181
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1244
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

FS
type: SiteQuality
SIO_000300: 2.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 7.09246e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.426e0

QD
type: SiteQuality
SIO_000300: 2.43e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1323A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1323A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1323A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-368A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1323A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1323A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.54A>C
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1323A>C
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3194
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3982
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1681
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8769
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33537
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7527
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2394
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.092322802422655e-5
allele num: 24436
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

MQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 7.41477e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.280G>T
hgvsp: ENSP00000433163.1:p.Ala94Ser
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1325G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1325G>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 2855
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7808
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4092
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32494
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9380
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.964163957821296e-5
allele num: 25226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 5.611e0

QD
type: SiteQuality
SIO_000300: 1.412e1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

DP
type: SiteQuality
SIO_000300: 7.59732e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1325G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1325G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1325G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.280G>A
hgvsp: ENSP00000432972.1:p.Ala94Thr
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1325G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.243G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1325G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1325G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 1258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9380
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32494
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4092
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2855
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7808
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.219575016097875e-4
allele num: 3106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.881844380403458e-4
allele num: 3470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.964163957821296e-5
allele num: 25226
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 7.59732e5

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 5.611e0

QD
type: SiteQuality
SIO_000300: 1.412e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.255C>T
hgvsp: ENST00000335922.5:c.255C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.279C>T
hgvsp: ENST00000413133.2:c.279C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1326C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1326C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1326C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1326C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.51C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-371C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 422
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7874
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4165
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1260
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10125
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31854
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2104
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32132
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12614
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.94431185361973e-5
allele num: 10056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.539e0

QD
type: SiteQuality
SIO_000300: 1.496e1

FS
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 7.74145e5

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.277C>T
hgvsp: ENSP00000400708.2:p.Pro93Ser
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1328C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000526570
gene symbol: FGFR1
hgvsc: ENST00000526570.1:n.1058C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.277C>T
hgvsp: ENSP00000432972.1:p.Pro93Ser
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.376C>T
hgvsp: ENSP00000393312.3:p.Pro126Ser
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7822C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1328C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-373C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4245
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2305
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31102
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2200
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7876
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10955
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.552397868561279e-5
allele num: 28150
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 5.106e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

DP
type: SiteQuality
SIO_000300: 7.89799e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.237G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1331G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1331G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1331G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-376G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1331G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.274G>A
hgvsp: ENSP00000433163.1:p.Val92Met
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1331G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4393
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29472
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 2215
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7657
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13116
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15404
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1432
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 30231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.122950819672131e-4
allele num: 3904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.110595187842972e-4
allele num: 4738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.801999607920016e-5
allele num: 30606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.081e1

VQSLOD
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.39e-1

DP
type: SiteQuality
SIO_000300: 8.25266e5

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 5.022e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1332C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.45C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1332C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4499
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2233
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14374
bin: 2.25e1
variant carriers: 4

GenotypeDepth
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28431
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1602
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1305
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7517
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.874882819823761e-4
allele num: 32002
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.794043774668102e-4
allele num: 5574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.44140625e-4
allele num: 4096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.46389e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1332C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1332C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-377C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1332C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.45C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.273C>A
hgvsp: ENST00000413133.2:c.273C>A(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1332C>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.273C>A
hgvsp: ENST00000532791.1:c.273C>A(p.%3D)
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4499
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1305
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2233
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14374
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1602
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28431
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7517
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.361542782250516e-5
allele num: 10682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5066
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

DP
type: SiteQuality
SIO_000300: 8.46389e5

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-382G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000526570
gene symbol: FGFR1
hgvsc: ENST00000526570.1:n.1049G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1337G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1337G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.526G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.268G>T
hgvsp: ENSP00000340636.5:p.Asp90Tyr
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.268G>T
hgvsp: ENSP00000400708.2:p.Asp90Tyr
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1337G>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1306
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18021
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7055
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25480
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2121
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26519
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.677137247902909e-4
allele num: 11206
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.96078431372549e-3
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36298
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 7.856e0

DP
type: SiteQuality
SIO_000300: 9.03054e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

VQSLOD
type: SiteQuality
SIO_000300: -1.055e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.714e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1339A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1339A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1339A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1339A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-384A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.524A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1339A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.266A>G
hgvsp: ENSP00000434712.1:p.Gln89Arg
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19737
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 24023
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2083
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6791
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1016
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4986
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1342
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.567398119122257e-4
allele num: 6380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.867820613690008e-5
allele num: 38130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 5.246e0

DP
type: SiteQuality
SIO_000300: 9.2991e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 1.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.264G>T
hgvsp: ENST00000341462.5:c.264G>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1341G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1341G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.227G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7835G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-386G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1341G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.264G>T
hgvsp: ENST00000532791.1:c.264G>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 2261
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22918
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1344
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 898
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 5172
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20777
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6607
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 950
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22306
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 2.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.039e0

DP
type: SiteQuality
SIO_000300: 9.49861e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1343G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.262G>T
hgvsp: ENSP00000433163.1:p.Val88Leu
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1343G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-388G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.225G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.34G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1343G>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7837G>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 21894
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6444
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21901
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1349
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2207
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5378
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1427
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22811
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.028467595396729e-4
allele num: 6604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

DP
type: SiteQuality
SIO_000300: 9.69422e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.183e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433569
ensembl transcript: ENST00000526742
gene symbol: FGFR1
hgvsc: ENST00000526742.1:c.92-1357G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.248G>A
hgvsp: ENSP00000400708.2:p.Gly83Glu
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-402G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.248G>A
hgvsp: ENSP00000433163.1:p.Gly83Glu
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.20G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1357G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1357G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1357G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 352
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1484
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1643
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4573
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7064
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13833
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31039
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14725
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34544
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2719
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.581501137225171e-5
allele num: 13190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 1.124595e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1360C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1360C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.245C>G
hgvsp: ENSP00000434712.1:p.Thr82Arg
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000474970
gene symbol: FGFR1
hgvsc: ENST00000474970.1:n.17C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1360C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1360C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.245C>G
hgvsp: ENSP00000340636.5:p.Thr82Arg
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.245C>G
hgvsp: ENSP00000433163.1:p.Thr82Arg
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 32360
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1678
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4169
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12436
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7485
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 312
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 436
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 236
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.769601930036188e-5
allele num: 53056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.152161e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.315e0

QD
type: SiteQuality
SIO_000300: 1.235e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7856C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.243C>T
hgvsp: ENST00000525001.1:c.243C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000526570
gene symbol: FGFR1
hgvsc: ENST00000526570.1:n.1024C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1362C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1362C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-407C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1362C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1362C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3907
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11539
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1588
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 966
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12360
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.051524710830704e-4
allele num: 9510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54112
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

QD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 2.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.505e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.170691e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000340636
ensembl transcript: ENST00000341462
gene symbol: FGFR1
hgvsc: ENST00000341462.5:c.241A>G
hgvsp: ENSP00000340636.5:p.Ile81Val
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.204A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000392645
ensembl transcript: ENST00000434187
gene symbol: FGFR1
hgvsc: ENST00000434187.1:c.92-1364A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1364A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1364A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.499A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7858A>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1364A>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 427
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10683
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1566
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3675
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34467
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7934
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1411
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11463
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 1194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.717194406202449e-4
allele num: 55204
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.223990208078335e-4
allele num: 8170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.326663564448581e-4
allele num: 4298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13778
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 2.661e0

DP
type: SiteQuality
SIO_000300: 1.187132e6

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400708
ensembl transcript: ENST00000413133
gene symbol: FGFR1
hgvsc: ENST00000413133.2:c.240C>T
hgvsp: ENST00000413133.2:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000397090
gene symbol: FGFR1
hgvsc: ENST00000397090.4:n.498C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.240C>T
hgvsp: ENST00000484370.1:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1365C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000432972
ensembl transcript: ENST00000532791
gene symbol: FGFR1
hgvsc: ENST00000532791.1:c.240C>T
hgvsp: ENST00000532791.1:c.240C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1365C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1365C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1365C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 252
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3556
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10332
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34819
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1366
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8066
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1598
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4336
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.694e1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

DP
type: SiteQuality
SIO_000300: 1.194575e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.633e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434712
ensembl transcript: ENST00000525001
gene symbol: FGFR1
hgvsc: ENST00000525001.1:c.239G>A
hgvsp: ENSP00000434712.1:p.Arg80His
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000400162
ensembl transcript: ENST00000447712
gene symbol: FGFR1
hgvsc: ENST00000447712.2:c.239G>A
hgvsp: ENSP00000400162.2:p.Arg80His
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.338G>A
hgvsp: ENSP00000393312.3:p.Arg113His
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-411G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1366G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1366G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1366G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380302
ensembl transcript: ENST00000397113
gene symbol: FGFR1
hgvsc: ENST00000397113.2:c.239G>A
hgvsp: ENSP00000380302.2:p.Arg80His
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 448
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1444
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34837
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3477
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1748
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8384
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9838
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 906
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 567
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.20889748549323e-4
allele num: 8272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.573087504912996e-5
allele num: 55974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 3.521e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.378e0

DP
type: SiteQuality
SIO_000300: 1.206065e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000470826
gene symbol: FGFR1
hgvsc: ENST00000470826.1:n.508-1367C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1367C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1367C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000532386
gene symbol: FGFR1
hgvsc: ENST00000532386.1:n.201C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1367C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.337C>T
hgvsp: ENSP00000393312.3:p.Arg113Cys
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1367C>T
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000526570
gene symbol: FGFR1
hgvsc: ENST00000526570.1:n.1019C>T
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1407
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3269
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35485
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8664
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9194
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39969
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 721
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759200619238618e-5
allele num: 56844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7664
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 3.909e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.218709e6

MQRankSum
type: SiteQuality
SIO_000300: -4.74e-1

QD
type: SiteQuality
SIO_000300: 6.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.179e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1372G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000433163
ensembl transcript: ENST00000484370
gene symbol: FGFR1
hgvsc: ENST00000484370.1:c.233G>A
hgvsp: ENSP00000433163.1:p.Arg78His
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000337247
ensembl transcript: ENST00000335922
gene symbol: FGFR1
hgvsc: ENST00000335922.5:c.209G>A
hgvsp: ENSP00000337247.5:p.Arg70His
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1372G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000530701
gene symbol: FGFR1
hgvsc: ENST00000530701.1:n.178-7866G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000348537
ensembl transcript: ENST00000356207
gene symbol: FGFR1
hgvsc: ENST00000356207.5:c.92-1372G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000527203
gene symbol: FGFR1
hgvsc: ENST00000527203.1:n.122-1372G>A
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435254
ensembl transcript: ENST00000487647
gene symbol: FGFR1
hgvsc: ENST00000487647.1:c.92-417G>A
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 455
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36754
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1785
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2924
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7651
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8380
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 776
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704681054174764e-5
allele num: 58662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 8.971e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

VQSLOD
type: SiteQuality
SIO_000300: -2.399e0

DP
type: SiteQuality
SIO_000300: 1.249589e6

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434473
ensembl transcript: ENST00000530568
gene symbol: FGFR1
hgvsc: ENST00000530568.1:c.92-1374C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000434869
ensembl transcript: ENST00000533668
gene symbol: FGFR1
hgvsc: ENST00000533668.1:c.-116-1374C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl transcript: ENST00000496296
gene symbol: FGFR1
hgvsc: ENST00000496296.1:n.835-1374C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380280
ensembl transcript: ENST00000397091
gene symbol: FGFR1
hgvsc: ENST00000397091.5:c.231C>G
hgvsp: ENSP00000380280.5:p.Asn77Lys
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000435283
ensembl transcript: ENST00000529552
gene symbol: FGFR1
hgvsc: ENST00000529552.1:c.92-1374C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000380292
ensembl transcript: ENST00000397103
gene symbol: FGFR1
hgvsc: ENST00000397103.1:c.92-1374C>G
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000393312
ensembl transcript: ENST00000425967
gene symbol: FGFR1
hgvsc: ENST00000425967.3:c.330C>G
hgvsp: ENSP00000393312.3:p.Asn110Lys
variant of: http://identifiers.org/hgnc/3688

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000077782
ensembl protein: ENSP00000327229
ensembl transcript: ENST00000326324
gene symbol: FGFR1
hgvsc: ENST00000326324.6:c.92-1374C>G
variant of: http://identifiers.org/hgnc/3688

GenotypeDepth
all individuals: 9608
bin: 2.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1321
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 2703
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6976
bin: 7.5e0
variant carriers: 0