11-35222654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222654
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222654
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-7030C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.948C>T
  hgvsp: ENST00000449691.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2861C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.257C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.502C>T
  hgvsp: ENST00000528455.1:c.502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.948C>T
  hgvsp: ENST00000437706.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.181C>T
  hgvsp: ENST00000524922.1:c.181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.416C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.819C>T
  hgvsp: ENST00000415148.2:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3405C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11042C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11042C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.25C>T
  hgvsp: ENST00000526553.1:c.25C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10139C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6998C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.948C>T
  hgvsp: ENST00000428726.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6998C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.948C>T
  hgvsp: ENST00000433354.2:c.948C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2861C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-5005C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp316Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-35222659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222659
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6993C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.953C>T
  hgvsp: ENSP00000391008.2:p.Thr318Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10134C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6993C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2866C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.824C>T
  hgvsp: ENSP00000389830.2:p.Thr275Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11047C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.507C>T
  hgvsp: ENSP00000432718.1:p.Thr170Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.186C>T
  hgvsp: ENSP00000436451.1:p.Thr63Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2866C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8853C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-7025C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3400C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.30C>T
  hgvsp: ENSP00000434418.1:p.Thr11Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11047C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.421C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20593C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.953C>T
  hgvsp: ENSP00000398632.2:p.Thr318Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.953C>T
  hgvsp: ENSP00000403990.2:p.Thr318Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2866C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr318Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

11-35222660-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222660
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222660
    reference: chr 11
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.954A>T
  hgvsp: ENST00000449691.2:c.954A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3399A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.508A>T
  hgvsp: ENST00000528455.1:c.508A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11048A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.954A>T
  hgvsp: ENST00000428726.2:c.954A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.954A>T
  hgvsp: ENST00000433354.2:c.954A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6992A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8852A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6992A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.31A>T
  hgvsp: ENST00000526553.1:c.31A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.187A>T
  hgvsp: ENST00000524922.1:c.187A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10133A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11141A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2867A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.263A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.954A>T
  hgvsp: ENST00000437706.2:c.954A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2867A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.422A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3399A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2867A>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr318Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

11-35222668-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222668
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222668
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20584A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6984A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.962A>G
  hgvsp: ENSP00000391008.2:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10125A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2875A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.39A>G
  hgvsp: ENSP00000434418.1:p.Asn14Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8844A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6984A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.195A>G
  hgvsp: ENSP00000436451.1:p.Asn66Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-7016A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.430A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.833A>G
  hgvsp: ENSP00000389830.2:p.Asn278Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11056A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6984A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.962A>G
  hgvsp: ENSP00000398632.2:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.962A>G
  hgvsp: ENSP00000403990.2:p.Asn321Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.516A>G
  hgvsp: ENSP00000432718.1:p.Asn173Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2875A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10125A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11056A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn321Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-35222673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222673
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222673
    reference: chr 11
allele count: 7
allele frequency: 5.768058142026072e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.200G>C
  hgvsp: ENSP00000436451.1:p.Asp68His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11061G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.967G>C
  hgvsp: ENSP00000414567.2:p.Asp323His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.838G>C
  hgvsp: ENSP00000389830.2:p.Asp280His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10120G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11061G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6979G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3386G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18214G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8839G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-7011G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6979G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.44G>C
  hgvsp: ENSP00000434418.1:p.Asp16His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.967G>C
  hgvsp: ENSP00000391008.2:p.Asp323His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.521G>C
  hgvsp: ENSP00000432718.1:p.Asp175His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11154G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2880G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2880G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.967G>C
  hgvsp: ENSP00000403990.2:p.Asp323His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.967G>C
  hgvsp: ENSP00000398632.2:p.Asp323His
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp323His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-35222674-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222674
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222674
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.522A>T
  hgvsp: ENSP00000432718.1:p.Asp175Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.839A>T
  hgvsp: ENSP00000389830.2:p.Asp280Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3385A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3385A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.201A>T
  hgvsp: ENSP00000436451.1:p.Asp68Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11062A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.968A>T
  hgvsp: ENSP00000403990.2:p.Asp323Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.277A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6978A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11155A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.45A>T
  hgvsp: ENSP00000434418.1:p.Asp16Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8838A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.968A>T
  hgvsp: ENSP00000398632.2:p.Asp323Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6978A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2881A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11062A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2881A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2881A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.968A>T
  hgvsp: ENSP00000391008.2:p.Asp323Val
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.436A>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp323Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

11-35222676-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222676
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222676
    reference: chr 11
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.970T>G
  hgvsp: ENSP00000414567.2:p.Trp324Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.438T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11064T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.970T>G
  hgvsp: ENSP00000403990.2:p.Trp324Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.841T>G
  hgvsp: ENSP00000389830.2:p.Trp281Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6976T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.203T>G
  hgvsp: ENSP00000436451.1:p.Trp69Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6976T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.524T>G
  hgvsp: ENSP00000432718.1:p.Trp176Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18211T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.970T>G
  hgvsp: ENSP00000391008.2:p.Trp324Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.279T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10117T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8836T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11064T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.970T>G
  hgvsp: ENSP00000398632.2:p.Trp324Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4983T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6976T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2883T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11064T>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp324Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-35222681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222681
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222681
    reference: chr 11
allele count: 5996
allele frequency: 4.941079522043675e-2
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2888C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2888C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6971C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8831C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3378C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3378C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.52C>T
  hgvsp: ENST00000526553.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10112C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.208C>T
  hgvsp: ENST00000524922.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.975C>T
  hgvsp: ENST00000437706.2:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11162C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.975C>T
  hgvsp: ENST00000449691.2:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11069C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.284C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10112C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.975C>T
  hgvsp: ENST00000433354.2:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.529C>T
  hgvsp: ENST00000528455.1:c.529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2888C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.846C>T
  hgvsp: ENST00000415148.2:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11069C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr325Thr
num of homozygotes: 212
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-35222686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222686
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222686
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6966G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.980G>A
  hgvsp: ENSP00000391008.2:p.Trp327Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8826G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.213G>A
  hgvsp: ENSP00000436451.1:p.Trp72Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11167G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.980G>A
  hgvsp: ENSP00000398632.2:p.Trp327Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.980G>A
  hgvsp: ENSP00000403990.2:p.Trp327Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2893G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11074G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2893G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4973G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10107G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.534G>A
  hgvsp: ENSP00000432718.1:p.Trp179Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.851G>A
  hgvsp: ENSP00000389830.2:p.Trp284Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.57G>A
  hgvsp: ENSP00000434418.1:p.Trp20Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.980G>A
  hgvsp: ENSP00000414567.2:p.Trp327Ter
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3373G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20566G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11074G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18201G>A
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp327Ter
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-35222695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222695
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222695
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.989G>A
  hgvsp: ENSP00000414567.2:p.Ser330Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8817G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.5G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11083G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.989G>A
  hgvsp: ENSP00000398632.2:p.Ser330Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6957G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6957G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.989G>A
  hgvsp: ENSP00000403990.2:p.Ser330Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18192G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2902G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.989G>A
  hgvsp: ENSP00000391008.2:p.Ser330Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.543G>A
  hgvsp: ENSP00000432718.1:p.Ser182Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.860G>A
  hgvsp: ENSP00000389830.2:p.Ser287Asn
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11083G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3364G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.457G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3364G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6957G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11083G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.222G>A
  hgvsp: ENSP00000436451.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser330Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-35222696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222696
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222696
    reference: chr 11
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.223C>T
  hgvsp: ENST00000524922.1:c.223C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11177C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3363C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.544C>T
  hgvsp: ENST00000528455.1:c.544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.861C>T
  hgvsp: ENST00000415148.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11084C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11084C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.299C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6956C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6956C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.990C>T
  hgvsp: ENST00000437706.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.6C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.67C>T
  hgvsp: ENST00000526553.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10097C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.990C>T
  hgvsp: ENST00000433354.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3363C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6956C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.990C>T
  hgvsp: ENST00000428726.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6956C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2903C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser330Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

11-35222698-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222698
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222698
    reference: chr 11
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.992A>T
  hgvsp: ENSP00000414567.2:p.His331Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.460A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11086A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8814A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2905A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.301A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3361A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.992A>T
  hgvsp: ENSP00000391008.2:p.His331Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.863A>T
  hgvsp: ENSP00000389830.2:p.His288Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.8A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10095A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11179A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6954A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11086A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.546A>T
  hgvsp: ENSP00000432718.1:p.His183Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20554A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4961A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2905A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.225A>T
  hgvsp: ENSP00000436451.1:p.His76Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6986A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6954A>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His331Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/11-35222703-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222703
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222703
    reference: chr 11
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6949A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11184A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.868A>C
  hgvsp: ENSP00000389830.2:p.Asn290His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.74A>C
  hgvsp: ENSP00000434418.1:p.Asn26His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2910A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.997A>C
  hgvsp: ENSP00000414567.2:p.Asn333His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4956A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2910A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.13A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.997A>C
  hgvsp: ENSP00000391008.2:p.Asn333His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.465A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.230A>C
  hgvsp: ENSP00000436451.1:p.Asn78His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11091A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.551A>C
  hgvsp: ENSP00000432718.1:p.Asn185His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18184A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.997A>C
  hgvsp: ENSP00000403990.2:p.Asn333His
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6949A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3356A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11091A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8809A>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn333His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

11-35222705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222705
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222705
    reference: chr 11
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11093T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11093T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6947T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.76T>C
  hgvsp: ENST00000526553.1:c.76T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8807T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6947T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6979T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.999T>C
  hgvsp: ENST00000437706.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.999T>C
  hgvsp: ENST00000449691.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.870T>C
  hgvsp: ENST00000415148.2:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.553T>C
  hgvsp: ENST00000528455.1:c.553T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11186T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3354T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2912T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.999T>C
  hgvsp: ENST00000433354.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.232T>C
  hgvsp: ENST00000524922.1:c.232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10088T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3354T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.15T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6947T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn333Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-35222707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222707
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222707
    reference: chr 11
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1001C>T
  hgvsp: ENSP00000403990.2:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10086C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.17C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6977C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20545C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3352C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11095C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.469C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6945C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.310C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2914C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6945C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3352C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.234C>T
  hgvsp: ENSP00000436451.1:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11188C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.78C>T
  hgvsp: ENSP00000434418.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8805C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11095C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1001C>T
  hgvsp: ENSP00000398632.2:p.Pro334Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.872C>T
  hgvsp: ENSP00000389830.2:p.Pro291Leu
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro334Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-35222708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222708
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222708
    reference: chr 11
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4951G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2915G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.18G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10085G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.235G>A
  hgvsp: ENST00000524922.1:c.235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1002G>A
  hgvsp: ENST00000428726.2:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6944G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3351G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.79G>A
  hgvsp: ENST00000526553.1:c.79G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.873G>A
  hgvsp: ENST00000415148.2:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2915G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.470G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1002G>A
  hgvsp: ENST00000449691.2:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11096G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11096G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1002G>A
  hgvsp: ENST00000437706.2:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1002G>A
  hgvsp: ENST00000433354.2:c.1002G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.556G>A
  hgvsp: ENST00000528455.1:c.556G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8804G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11189G>A
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro334Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

11-35222732-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222732
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222729
    reference: chr 11
allele count: 4
allele frequency: 3.30016665841625e-5
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20518_234-20516delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11122_667+11124delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.105_107delGGA
  hgvsp: ENSP00000434418.1:p.Arg36del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1028_1030delGGA
  hgvsp: ENSP00000398632.2:p.Arg343del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6918_442-6916delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.337_339delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.899_901delGGA
  hgvsp: ENSP00000389830.2:p.Arg300del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1028_1030delGGA
  hgvsp: ENSP00000414567.2:p.Arg343del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1028_1030delGGA
  hgvsp: ENSP00000391008.2:p.Arg343del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.261_263delGGA
  hgvsp: ENSP00000436451.1:p.Arg88del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11122_*290+11124delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.582_584delGGA
  hgvsp: ENSP00000432718.1:p.Arg195del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6950_501-6948delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4925_605-4923delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3325_290-3323delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2941_310+2943delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18153_290-18151delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1028_1030delGGA
  hgvsp: ENSP00000403990.2:p.Arg343del
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10059_668-10057delGGA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.496_498delGGA
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg343del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: AAGG
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

11-35222733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222733
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222733
    reference: chr 11
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6919A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11214A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.336A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.898A>G
  hgvsp: ENSP00000389830.2:p.Arg300Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11121A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.495A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.43A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1027A>G
  hgvsp: ENSP00000391008.2:p.Arg343Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3326A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11121A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6919A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6919A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.581A>G
  hgvsp: ENSP00000432718.1:p.Arg195Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1027A>G
  hgvsp: ENSP00000403990.2:p.Arg343Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18154A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.260A>G
  hgvsp: ENSP00000436451.1:p.Arg88Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.104A>G
  hgvsp: ENSP00000434418.1:p.Arg36Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4926A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3326A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11121A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg343Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-35222734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222734
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222734
    reference: chr 11
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.261G>A
  hgvsp: ENSP00000436451.1:p.Arg88Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11122G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2941G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8778G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6918G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1028G>A
  hgvsp: ENSP00000403990.2:p.Arg343Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.582G>A
  hgvsp: ENSP00000432718.1:p.Arg195Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.105G>A
  hgvsp: ENSP00000434418.1:p.Arg36Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10059G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6918G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.337G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.899G>A
  hgvsp: ENSP00000389830.2:p.Arg300Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2941G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.44G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20518G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1028G>A
  hgvsp: ENSP00000414567.2:p.Arg343Lys
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.496G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4925G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18153G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1028G>A
  hgvsp: ENSP00000391008.2:p.Arg343Lys
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg343Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-35222736-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222736
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222736
    reference: chr 11
allele count: 4
allele frequency: 3.301637612255679e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6916A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1030A>T
  hgvsp: ENSP00000391008.2:p.Met344Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20516A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4923A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1030A>T
  hgvsp: ENSP00000403990.2:p.Met344Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.584A>T
  hgvsp: ENSP00000432718.1:p.Met196Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3323A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2943A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8776A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.901A>T
  hgvsp: ENSP00000389830.2:p.Met301Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.339A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1030A>T
  hgvsp: ENSP00000398632.2:p.Met344Leu
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.46A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18151A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11124A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.498A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6948A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11124A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2943A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1030A>T
  hgvsp: ENSP00000414567.2:p.Met344Leu
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met344Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-35222741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222741
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222741
    reference: chr 11
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1035T>C
  hgvsp: ENST00000428726.2:c.1035T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1035T>C
  hgvsp: ENST00000433354.2:c.1035T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11129T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.51T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11129T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3318T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10052T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2948T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4918T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.268T>C
  hgvsp: ENST00000524922.1:c.268T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6911T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1035T>C
  hgvsp: ENST00000449691.2:c.1035T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11222T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.344T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1035T>C
  hgvsp: ENST00000437706.2:c.1035T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20511T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.503T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.112T>C
  hgvsp: ENST00000526553.1:c.112T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3318T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1035T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-35222756-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222756
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222755
    reference: chr 11
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11145delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.590+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6895delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6895delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10036delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2964delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11238delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6927delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20495delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11145delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6895delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11145delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18130delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4902delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6895delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1036+15delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1036+15delA
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: CA
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

11-35222759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222759
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222759
    reference: chr 11
allele count: 889
allele frequency: 7.381023546212347e-3
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.590+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10034A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20493A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8753A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3300A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2966A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3300A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.269+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18128A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6925A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11147A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11147A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6893A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+17A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11147A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11240A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 39
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-35222763-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222763
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222763
    reference: chr 11
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18124A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1036+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6889A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10030A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2970A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11151A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1036+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6889A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3296A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+21A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2970A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11151A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10030A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20489A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4896A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11244A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8749A>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11151A>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

11-35222771-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222771
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222772
    reference: chr 11
allele count: 2
allele frequency: 1.67089961235129e-5
allele num: 119696
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2985dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6874dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11166dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11166dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8734dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+36dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.269+36dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3281dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+36dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3281dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4881dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6874dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+36dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6906dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11166dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11166dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+36dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20474dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11259dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10015dupT
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18109dupT
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-35222778-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222778
    reference: chr 11
allele count: 1
allele frequency: 8.382932349735938e-6
allele num: 119290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11166T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6906T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20474T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6874T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6874T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.269+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4881T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11259T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.590+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3281T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6874T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11166T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2985T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1036+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1036+36T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11166T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2985T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

11-35222784-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222784
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222784
    reference: chr 11
allele count: 7
allele frequency: 5.899705014749263e-5
allele num: 118650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6900C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1036+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4875C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11172C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11172C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10009C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.590+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11172C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3275C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11265C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11172C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3275C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2991C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6868C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+42C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2991C>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-35222784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222784
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222784
    reference: chr 11
allele count: 3
allele frequency: 2.528445006321113e-5
allele num: 118650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11172C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1036+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1036+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10009C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6868C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6868C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6900C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11172C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6868C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2991C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11172C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11265C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3275C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+42C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6868C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8728C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

11-35222788-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222788
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222788
    reference: chr 11
allele count: 6
allele frequency: 5.074939946543966e-5
allele num: 118228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2995G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.590+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18099G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6864G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10005G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8724G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3271G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11176G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11176G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3271G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1036+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4871G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10005G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11176G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11269G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1036+46G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2995G>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-35222792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35222792
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35222792
    reference: chr 11
allele count: 3
allele frequency: 2.545911266505991e-5
allele num: 117836
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-18095A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-3267A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+2999A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.504+50A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11180A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.907+50A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6860A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.52+50A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11180A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4867A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+2999A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6860A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20460A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11273A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1036+50A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+2999A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-10001A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.345+50A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-3267A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-10001A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11180A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

11-35223171-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223171
    reference: chr 11
allele count: 20
allele frequency: 1.657138122462507e-4
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6481G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4488G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2888G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11652G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.908-47G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.4G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6481G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11559G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-44G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.591-47G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11559G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11559G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2888G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20081G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6513G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6481G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9622G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-44G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1037-47G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1037-44G>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1037-47G>T
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

11-35223181-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223181
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223178
    reference: chr 11
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6500_501-6498delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1037-34_1037-32delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6468_668-6466delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-31_53-29delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11572_*290+11574delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.17_19delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8328_430-8326delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11572_665+11574delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11665_454+11667delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6468_176-6466delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4475_605-4473delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9609_509-9607delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6468_442-6466delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-31_346-29delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20068_234-20066delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3391_292+3393delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.908-34_908-32delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11572_667+11574delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.591-34_591-32delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11572_667+11574delCAA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3391_310+3393delCAA
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: TAAC
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/11-35223184-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223184
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223183
    reference: chr 11
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3393delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6466delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11574delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2873delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4473delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-29delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+444delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.591-32delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11574delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6498delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9607delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.19delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11574delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.270-32delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3393delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1037-32delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11667delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11574delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-29delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6466delA
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17701delA
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: CA
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-35223204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223204
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223204
    reference: chr 11
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20048C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4455C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11685C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6448C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-11C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-11C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.908-14C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11592C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9589C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1037-14C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.270-14C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11592C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.37C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6448C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6448C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17683C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.505-11C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6480C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11592C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6448C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9589C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-35223209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223209
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223209
    reference: chr 11
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6475T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.270-9T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1037-6T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11597T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6443T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20043T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9584T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9584T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11597T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6443T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8303T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.42T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-6T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-6T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11597T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.505-6T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.908-9T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3416T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4450T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17678T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.591-9T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.346-6T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

11-35223213-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223213
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223213
    reference: chr 11
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3420A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.505-2A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6439A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3420A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3420A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9580A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.346-2A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.270-5A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1037-5A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.46A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2846A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1037-5A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1037-5A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8299A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2846A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1037-2A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+471A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.53-2A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.908-5A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.591-5A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.505-2A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

11-35223230-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223230
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223230
    reference: chr 11
allele count: 6
allele frequency: 4.95163899250652e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6422A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1049A>T
  hgvsp: ENSP00000398632.2:p.Asn350Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3437A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.5A>T
  hgvsp: ENSP00000431860.1:p.Asn2Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3437A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11618A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.361A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.68A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11618A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.63A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.920A>T
  hgvsp: ENSP00000389830.2:p.Asn307Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1049A>T
  hgvsp: ENSP00000403990.2:p.Asn350Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2829A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17657A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9563A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11711A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1052A>T
  hgvsp: ENSP00000414567.2:p.Asn351Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.520A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11618A>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8282A>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn350Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

11-35223240-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223240
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223240
    reference: chr 11
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.78T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11628T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20012T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.15T>C
  hgvsp: ENST00000528672.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2819T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9553T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.73T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11628T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4419T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6412T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17647T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6412T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3447T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1059T>C
  hgvsp: ENST00000449691.2:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.613T>C
  hgvsp: ENST00000528455.1:c.613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.930T>C
  hgvsp: ENST00000415148.2:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3447T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3447T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1059T>C
  hgvsp: ENST00000428726.2:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1059T>C
  hgvsp: ENST00000437706.2:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr353Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-35223244-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223244
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223244
    reference: chr 11
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1063T>G
  hgvsp: ENSP00000398632.2:p.Tyr355Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.82T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9549T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2815T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.77T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6408T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1066T>G
  hgvsp: ENSP00000414567.2:p.Tyr356Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.296T>G
  hgvsp: ENSP00000436451.1:p.Tyr100Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1063T>G
  hgvsp: ENSP00000391008.2:p.Tyr355Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.534T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.934T>G
  hgvsp: ENSP00000389830.2:p.Tyr312Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11632T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.375T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-20008T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.617T>G
  hgvsp: ENSP00000432718.1:p.Tyr207Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3451T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6408T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2815T>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.19T>G
  hgvsp: ENSP00000431860.1:p.Tyr7Asp
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3451T>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr355Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS

11-35223266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223266
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223266
    reference: chr 11
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1085A>G
  hgvsp: ENSP00000403990.2:p.Glu362Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6386A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.318A>G
  hgvsp: ENSP00000436451.1:p.Glu107Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4393A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11747A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.556A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3473A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.104A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11654A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2793A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3473A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11654A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6386A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.639A>G
  hgvsp: ENSP00000432718.1:p.Glu214Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2793A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.41A>G
  hgvsp: ENSP00000431860.1:p.Glu14Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1085A>G
  hgvsp: ENSP00000391008.2:p.Glu362Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1085A>G
  hgvsp: ENSP00000398632.2:p.Glu362Gly
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17621A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.99A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu362Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-35223274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223274
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223274
    reference: chr 11
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.564C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6378C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1093C>T
  hgvsp: ENSP00000403990.2:p.Pro365Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8238C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1093C>T
  hgvsp: ENSP00000398632.2:p.Pro365Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.405C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6378C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11662C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3481C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17613C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2785C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19978C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.964C>T
  hgvsp: ENSP00000389830.2:p.Pro322Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1096C>T
  hgvsp: ENSP00000414567.2:p.Pro366Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.112C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.647C>T
  hgvsp: ENSP00000432718.1:p.Pro217Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9519C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.49C>T
  hgvsp: ENSP00000431860.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.107C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6378C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro365Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-35223278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223278
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223278
    reference: chr 11
allele count: 14
allele frequency: 1.154867767640605e-4
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.53C>G
  hgvsp: ENSP00000431860.1:p.Pro18Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2781C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3485C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19974C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11759C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.111C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6374C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6374C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525348
  gene symbol: CD44
  hgvsc: ENST00000525348.1:n.568C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.330C>G
  hgvsp: ENSP00000436451.1:p.Pro111Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1097C>G
  hgvsp: ENSP00000403990.2:p.Pro366Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3485C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.651C>G
  hgvsp: ENSP00000432718.1:p.Pro218Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6374C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9515C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1100C>G
  hgvsp: ENSP00000414567.2:p.Pro367Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.409C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1097C>G
  hgvsp: ENSP00000398632.2:p.Pro366Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11666C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11666C>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro366Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

11-35223284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223284
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223284
    reference: chr 11
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1103T>C
  hgvsp: ENSP00000398632.2:p.Ile368Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+542T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3491T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3491T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6368T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4375T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2775T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.59T>C
  hgvsp: ENSP00000431860.1:p.Ile20Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6368T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.657T>C
  hgvsp: ENSP00000432718.1:p.Ile220Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1103T>C
  hgvsp: ENSP00000403990.2:p.Ile368Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1106T>C
  hgvsp: ENSP00000414567.2:p.Ile369Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11672T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9509T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11672T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.415T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.336T>C
  hgvsp: ENSP00000436451.1:p.Ile113Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.117T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.974T>C
  hgvsp: ENSP00000389830.2:p.Ile325Thr
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9509T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile368Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-35223291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223291
    reference: chr 11
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3498T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.124T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6361T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.422T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+549T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.664T>C
  hgvsp: ENST00000528455.1:c.664T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3498T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1110T>C
  hgvsp: ENST00000428726.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2768T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11679T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1113T>C
  hgvsp: ENST00000433354.2:c.1113T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1110T>C
  hgvsp: ENST00000449691.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.343T>C
  hgvsp: ENST00000524922.1:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11679T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17596T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9502T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4368T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.981T>C
  hgvsp: ENST00000415148.2:c.981T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3498T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1110T>C
  hgvsp: ENST00000437706.2:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His370His
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-35223292-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223292
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223292
    reference: chr 11
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6360G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19960G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2767G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8220G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.982G>C
  hgvsp: ENSP00000389830.2:p.Glu328Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1111G>C
  hgvsp: ENSP00000398632.2:p.Glu371Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6360G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1111G>C
  hgvsp: ENSP00000403990.2:p.Glu371Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1111G>C
  hgvsp: ENSP00000391008.2:p.Glu371Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11680G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17595G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3499G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.67G>C
  hgvsp: ENSP00000431860.1:p.Glu23Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11680G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.665G>C
  hgvsp: ENSP00000432718.1:p.Glu223Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9501G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.344G>C
  hgvsp: ENSP00000436451.1:p.Glu116Gln
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3499G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.423G>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1114G>C
  hgvsp: ENSP00000414567.2:p.Glu372Gln
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu371Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-35223299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223299
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223299
    reference: chr 11
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1118A>G
  hgvsp: ENSP00000398632.2:p.His373Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.989A>G
  hgvsp: ENSP00000389830.2:p.His330Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.132A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6353A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436451
  ensembl transcript: ENST00000524922
  gene symbol: CD44
  hgvsc: ENST00000524922.1:c.351A>G
  hgvsp: ENSP00000436451.1:p.His118Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9494A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4360A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.74A>G
  hgvsp: ENSP00000431860.1:p.His25Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2760A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1118A>G
  hgvsp: ENSP00000403990.2:p.His373Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6353A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1118A>G
  hgvsp: ENSP00000391008.2:p.His373Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17588A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.672A>G
  hgvsp: ENSP00000432718.1:p.His225Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6353A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11687A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3506A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6385A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6353A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19953A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His373Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

11-35223303-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223303
    reference: chr 11
allele count: 3294
allele frequency: 2.717418205217047e-2
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1122G>A
  hgvsp: ENST00000449691.2:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11691G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3510G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17584G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278385
  ensembl transcript: ENST00000278385
  gene symbol: CD44
  hgvsc: ENST00000278385.6:c.176-6349G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11691G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1125G>A
  hgvsp: ENST00000433354.2:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3510G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.136G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19949G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.141G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6349G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.78G>A
  hgvsp: ENST00000528672.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.993G>A
  hgvsp: ENST00000415148.2:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+561G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432718
  ensembl transcript: ENST00000528455
  gene symbol: CD44
  hgvsc: ENST00000528455.1:c.676G>A
  hgvsp: ENST00000528455.1:c.676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9490G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4356G>A
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1122G>A
  hgvsp: ENST00000437706.2:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.434G>A
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu374Glu
num of homozygotes: 469
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-35223316-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223316
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223316
    reference: chr 11
allele count: 24
allele frequency: 1.980132668888815e-4
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3523C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1135C>G
  hgvsp: ENSP00000391008.2:p.Pro379Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1006C>G
  hgvsp: ENSP00000389830.2:p.Pro336Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6336C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1135C>G
  hgvsp: ENSP00000403990.2:p.Pro379Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2743C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11797C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+574C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2743C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.91C>G
  hgvsp: ENSP00000431860.1:p.Pro31Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6368C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.149C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.447C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1135C>G
  hgvsp: ENSP00000398632.2:p.Pro379Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11704C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9477C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1138C>G
  hgvsp: ENSP00000414567.2:p.Pro380Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11704C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4343C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.154C>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro379Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

11-35223317-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223317
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223317
    reference: chr 11
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9476C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.150C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11705C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.448C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1136C>G
  hgvsp: ENSP00000391008.2:p.Pro379Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11705C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+575C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1136C>G
  hgvsp: ENSP00000398632.2:p.Pro379Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17570C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3524C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.155C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.92C>G
  hgvsp: ENSP00000431860.1:p.Pro31Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6367C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3524C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2742C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1007C>G
  hgvsp: ENSP00000389830.2:p.Pro336Arg
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8195C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2742C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3524C>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1136C>G
  hgvsp: ENSP00000403990.2:p.Pro379Arg
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro379Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

11-35223324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223324
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223324
    reference: chr 11
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2735T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.157T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2735T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.162T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1146T>C
  hgvsp: ENST00000433354.2:c.1146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+582T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1143T>C
  hgvsp: ENST00000428726.2:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6328T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6360T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9469T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6328T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.99T>C
  hgvsp: ENST00000528672.1:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1143T>C
  hgvsp: ENST00000449691.2:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000433189
  ensembl transcript: ENST00000531873
  gene symbol: CD44
  hgvsc: ENST00000531873.1:c.430-8188T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1143T>C
  hgvsp: ENST00000437706.2:c.1143T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4335T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3531T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1014T>C
  hgvsp: ENST00000415148.2:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17563T>C
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.455T>C
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser381Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-35223326-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223326
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223326
    reference: chr 11
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1145C>T
  hgvsp: ENSP00000391008.2:p.Thr382Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1145C>T
  hgvsp: ENSP00000398632.2:p.Thr382Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.164C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000404447
  ensembl transcript: ENST00000434472
  gene symbol: CD44
  hgvsc: ENST00000434472.2:c.668-9467C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2733C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1016C>T
  hgvsp: ENSP00000389830.2:p.Thr339Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17561C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11714C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.159C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3533C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11714C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9467C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2733C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000263398
  ensembl transcript: ENST00000263398
  gene symbol: CD44
  hgvsc: ENST00000263398.6:c.667+11714C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.101C>T
  hgvsp: ENSP00000431860.1:p.Thr34Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.457C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3533C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19926C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1145C>T
  hgvsp: ENSP00000403990.2:p.Thr382Ile
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4333C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr382Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

11-35223330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223330
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223330
    reference: chr 11
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000431860
  ensembl transcript: ENST00000528672
  gene symbol: CD44
  hgvsc: ENST00000528672.1:c.105C>T
  hgvsp: ENST00000528672.1:c.105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6354C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+588C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3537C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6322C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.163C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3537C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.461C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398099
  ensembl transcript: ENST00000442151
  gene symbol: CD44
  hgvsc: ENST00000442151.2:c.665+11718C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.168C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1149C>T
  hgvsp: ENST00000449691.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1152C>T
  hgvsp: ENST00000433354.2:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6322C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2729C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1149C>T
  hgvsp: ENST00000437706.2:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1020C>T
  hgvsp: ENST00000415148.2:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436980
  ensembl transcript: ENST00000525688
  gene symbol: CD44
  hgvsc: ENST00000525688.1:c.310+3537C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434465
  ensembl transcript: ENST00000526000
  gene symbol: CD44
  hgvsc: ENST00000526000.1:c.509-9463C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000309732
  ensembl transcript: ENST00000352818
  gene symbol: CD44
  hgvsc: ENST00000352818.4:c.667+11718C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434530
  ensembl transcript: ENST00000527889
  gene symbol: CD44
  hgvsc: ENST00000527889.1:c.442-6322C>T
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000278386
  ensembl transcript: ENST00000278386
  gene symbol: CD44
  hgvsc: ENST00000278386.6:c.234-19922C>T
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser383Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

11-35223331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35223331
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 35223331
    reference: chr 11
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000391008
  ensembl transcript: ENST00000449691
  gene symbol: CD44
  hgvsc: ENST00000449691.2:c.1150A>G
  hgvsp: ENSP00000391008.2:p.Thr384Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000398632
  ensembl transcript: ENST00000428726
  gene symbol: CD44
  hgvsc: ENST00000428726.2:c.1150A>G
  hgvsp: ENSP00000398632.2:p.Thr384Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534296
  gene symbol: CD44
  hgvsc: ENST00000534296.1:n.462A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000403990
  ensembl transcript: ENST00000437706
  gene symbol: CD44
  hgvsc: ENST00000437706.2:c.1150A>G
  hgvsp: ENSP00000403990.2:p.Thr384Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000392331
  ensembl transcript: ENST00000433892
  gene symbol: CD44
  hgvsc: ENST00000433892.2:c.668-6321A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000534082
  gene symbol: CD44
  hgvsc: ENST00000534082.1:n.169A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000435321
  ensembl transcript: ENST00000533222
  gene symbol: CD44
  hgvsc: ENST00000533222.1:c.292+3538A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000389830
  ensembl transcript: ENST00000415148
  gene symbol: CD44
  hgvsc: ENST00000415148.2:c.1021A>G
  hgvsp: ENSP00000389830.2:p.Thr341Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525241
  gene symbol: CD44
  hgvsc: ENST00000525241.1:n.141-2728A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000414567
  ensembl transcript: ENST00000433354
  gene symbol: CD44
  hgvsc: ENST00000433354.2:c.1153A>G
  hgvsp: ENSP00000414567.2:p.Thr385Ala
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436623
  ensembl transcript: ENST00000525685
  gene symbol: CD44
  hgvsc: ENST00000525685.1:c.525+3538A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000436549
  ensembl transcript: ENST00000531110
  gene symbol: CD44
  hgvsc: ENST00000531110.1:c.290-2728A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000353280
  ensembl transcript: ENST00000360158
  gene symbol: CD44
  hgvsc: ENST00000360158.4:c.668-6321A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000525293
  gene symbol: CD44
  hgvsc: ENST00000525293.1:n.164A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432405
  ensembl transcript: ENST00000525211
  gene symbol: CD44
  hgvsc: ENST00000525211.1:c.605-4328A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl transcript: ENST00000528086
  gene symbol: CD44
  hgvsc: ENST00000528086.1:n.501-6353A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000432704
  ensembl transcript: ENST00000526669
  gene symbol: CD44
  hgvsc: ENST00000526669.2:c.290-17556A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000279452
  ensembl transcript: ENST00000279452
  gene symbol: CD44
  hgvsc: ENST00000279452.6:c.454+11812A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000434418
  ensembl transcript: ENST00000526553
  gene symbol: CD44
  hgvsc: ENST00000526553.1:c.113+589A>G
  variant of: http://identifiers.org/hgnc/1681
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026508
  ensembl protein: ENSP00000395953
  ensembl transcript: ENST00000425428
  gene symbol: CD44
  hgvsc: ENST00000425428.2:c.*290+11719A>G
  variant of: http://identifiers.org/hgnc/1681
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Thr384Ala
num of homozygotes: 0
reference allele: A

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6998C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20598C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11042C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2861C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3405C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6998C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10139C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11135C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18233C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11042C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8858C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15914
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4009
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2179
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4432
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1111
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7858
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19433
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17255
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.787e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.852e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 2.425018e6

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6993C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.953C>T
hgvsp: ENSP00000414567.2:p.Thr318Ile
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18228C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11047C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11047C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.262C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11140C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3400C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10134C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-5000C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6993C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8109
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4432
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 901
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15918
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2179
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4009
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17254
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2756
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3722
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.702e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

FS
type: SiteQuality
SIO_000300: 1.888e0

DP
type: SiteQuality
SIO_000300: 2.425047e6

MQRankSum
type: SiteQuality
SIO_000300: -1.039e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.804e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11048A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4999A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6992A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11048A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6992A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000389830
ensembl transcript: ENST00000415148
gene symbol: CD44
hgvsc: ENST00000415148.2:c.825A>T
hgvsp: ENST00000415148.2:c.825A>T(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-7024A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11048A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20592A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18227A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10133A>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4012
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15330
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15917
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4432
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2180
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 901
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7857
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17253
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1880
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.171e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.425172e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2875A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11149A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11056A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6984A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.271A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18219A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3391A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11056A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4991A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3391A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.962A>G
hgvsp: ENSP00000414567.2:p.Asn321Ser
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4006
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15921
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8110
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15331
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4432
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2178
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3723
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7857
bin: 6.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.42498e6

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

VQSLOD
type: SiteQuality
SIO_000300: -1.033e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.057e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6979G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10120G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6979G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11061G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20579G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11061G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.435G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3386G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.276G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4986G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2880G>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4433
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2184
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 4002
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15331
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15922
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19443
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 17252
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4589
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3143
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.425427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20578A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6978A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-7010A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11062A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.968A>T
hgvsp: ENSP00000414567.2:p.Asp323Val
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6978A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18213A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4985A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10119A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11062A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10119A>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4002
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15924
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4433
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2178
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15335
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19448
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.518e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.424539e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2883T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6976T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10117T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-7008T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20576T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.47T>G
hgvsp: ENSP00000434418.1:p.Trp17Gly
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11157T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3383T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11064T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2883T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3383T>G
variant of: http://identifiers.org/hgnc/1681

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

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15923
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8108
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2178
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3996
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 449
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 899
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1110
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4434
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15338
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1337
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 831
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19427
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3144
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2755
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17244
bin: 9.75e1
variant carriers: 2

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.424654e6

MQ
type: SiteQuality
SIO_000300: 5.99e1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 2.346e0

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 1.089e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11069C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6971C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4978C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18206C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.975C>T
hgvsp: ENST00000428726.2:c.975C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.443C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11069C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20571C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6971C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6971C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-7003C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 296
bin: 7.75e1
variant carriers: 33

GenotypeDepth
all individuals: 493
bin: 6.75e1
variant carriers: 24

GenotypeDepth
all individuals: 1363
bin: 5.25e1
variant carriers: 22

GenotypeDepth
all individuals: 986
bin: 5.75e1
variant carriers: 26

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

GenotypeDepth
all individuals: 8007
bin: 3.75e1
variant carriers: 17

GenotypeDepth
all individuals: 6211
bin: 9.75e1
variant carriers: 5390

GenotypeDepth
all individuals: 396
bin: 7.25e1
variant carriers: 31

GenotypeDepth
all individuals: 216
bin: 8.75e1
variant carriers: 48

GenotypeDepth
all individuals: 4289
bin: 4.25e1
variant carriers: 16

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

GenotypeDepth
all individuals: 3869
bin: 2.25e1
variant carriers: 10

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

GenotypeDepth
all individuals: 202
bin: 9.25e1
variant carriers: 60

GenotypeDepth
all individuals: 15796
bin: 2.75e1
variant carriers: 10

GenotypeDepth
all individuals: 2355
bin: 4.75e1
variant carriers: 19

GenotypeDepth
all individuals: 700
bin: 6.25e1
variant carriers: 28

GenotypeDepth
all individuals: 15215
bin: 3.25e1
variant carriers: 8

GenotypeDepth
all individuals: 253
bin: 8.25e1
variant carriers: 40

GenotypeQuality
all individuals: 1845
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19297
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17680
bin: 9.75e1
variant carriers: 5781

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7790
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3097
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2711
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4540
bin: 7.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 4430
allele frequency: 6.640484470560019e-2
allele num: 66712
num of homozygotes: 151

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 199
allele frequency: 1.205184108527132e-2
allele num: 16512
num of homozygotes: 5

Other
type: Population
allele count: 39
allele frequency: 4.295154185022027e-2
allele num: 908
num of homozygotes: 1

Latino
type: Population
allele count: 365
allele frequency: 3.155801487117413e-2
allele num: 11566
num of homozygotes: 8

African
type: Population
allele count: 227
allele frequency: 2.182272639876947e-2
allele num: 10402
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 735
allele frequency: 1.111615245009074e-1
allele num: 6612
num of homozygotes: 45

BaseQRankSum
type: SiteQuality
SIO_000300: -2.039e0

FS
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 2.994547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6966G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11074G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2893G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10107G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3373G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6966G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6998G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.448G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11074G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6966G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.289G>A
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 4586
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16883
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8754
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2522
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4234
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 896
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12877
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1979
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8701
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

FS
type: SiteQuality
SIO_000300: 1.798e0

DP
type: SiteQuality
SIO_000300: 2.177411e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.314e0

QD
type: SiteQuality
SIO_000300: 1.033e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.66G>A
hgvsp: ENSP00000434418.1:p.Ser23Asn
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.298G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6957G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2902G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4964G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10098G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10098G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2902G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11083G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6989G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20557G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11176G>A
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 527
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8753
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16887
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 4217
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2523
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 8698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3979
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12876
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.462e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.731e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.176962e6

FS
type: SiteQuality
SIO_000300: 1.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.618e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18191C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.990C>T
hgvsp: ENST00000449691.2:c.990C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2903C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11084C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6988C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10097C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11084C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.458C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4963C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8816C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20556C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2903C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2523
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 16888
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17737
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8752
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4207
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12875
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21732
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4979
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8698
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3977
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

DP
type: SiteQuality
SIO_000300: 2.176858e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.007e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000403990
ensembl transcript: ENST00000437706
gene symbol: CD44
hgvsc: ENST00000437706.2:c.992A>T
hgvsp: ENSP00000403990.2:p.His331Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.69A>T
hgvsp: ENSP00000434418.1:p.His24Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.992A>T
hgvsp: ENSP00000398632.2:p.His331Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6954A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6954A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10095A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2905A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11086A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11086A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18189A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3361A>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 895
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17739
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8753
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16886
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2522
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 12874
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21738
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: -1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 1.16e1

DP
type: SiteQuality
SIO_000300: 2.176808e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20549A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6949A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6949A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6981A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11091A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10090A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3356A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.306A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.997A>C
hgvsp: ENSP00000398632.2:p.Asn333His
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2910A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11091A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10090A>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8754
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2524
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4211
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16884
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17732
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 895
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12873
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

DP
type: SiteQuality
SIO_000300: 2.176665e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 1.535e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11093T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4954T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.999T>C
hgvsp: ENST00000428726.2:c.999T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18182T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2912T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6947T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.308T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20547T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2912T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10088T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.467T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11093T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 2522
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8754
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4211
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16884
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 894
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 2.176349e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 2.467e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.301e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1001C>T
hgvsp: ENSP00000391008.2:p.Pro334Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6945C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.555C>T
hgvsp: ENSP00000432718.1:p.Pro186Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2914C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18180C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11095C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10086C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11095C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1001C>T
hgvsp: ENSP00000414567.2:p.Pro334Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2914C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6945C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4952C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4209
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17726
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16885
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2520
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8756
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1476
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3432
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1978
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12871
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8693
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996821684507211e-5
allele num: 66702
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.176587e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6944G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10085G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2915G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11096G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6976G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11096G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.311G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6944G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3351G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18179G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20544G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6944G>A
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 231
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16884
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 742
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8757
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2521
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17727
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4205
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4583
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21726
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12868
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3975
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.176109e6

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.365e0

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

FS
type: SiteQuality
SIO_000300: 3.586e0

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6918_176-6916delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3325_141-3323delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11122_667+11124delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6918_668-6916delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2941_292+2943delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8778_430-8776delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.44_46delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10059_509-10057delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6918_668-6916delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11215_454+11217delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11122_665+11124delGGA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2941_525+2943delGGA
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 16866
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2519
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8751
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1472
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17724
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 401
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4111
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8673
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21634
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3972
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12866
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.874e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -2.642e0

DP
type: SiteQuality
SIO_000300: 2.174108e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.399e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6919A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6951A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20519A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11121A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2940A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1027A>G
hgvsp: ENSP00000414567.2:p.Arg343Gly
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10060A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2940A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2940A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1027A>G
hgvsp: ENSP00000398632.2:p.Arg343Gly
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8779A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10060A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8748
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1046
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4103
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2519
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 7.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 17722
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 740
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16867
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21624
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12861
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8673
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.586e1

MQRankSum
type: SiteQuality
SIO_000300: -1.318e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.277e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.17362e6

VQSLOD
type: SiteQuality
SIO_000300: -1.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1028G>A
hgvsp: ENSP00000398632.2:p.Arg343Lys
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3325G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6918G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2941G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6950G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6918G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11215G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10059G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11122G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3325G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11122G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11122G>A
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17716
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1472
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16866
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 740
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4099
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 402
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8747
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 525
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2518
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21613
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12865
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3421
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3971
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.236e0

DP
type: SiteQuality
SIO_000300: 2.173679e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.534e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11217A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.263A>T
hgvsp: ENSP00000436451.1:p.Met89Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11124A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.107A>T
hgvsp: ENSP00000434418.1:p.Met37Leu
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10057A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6916A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10057A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3323A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2943A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6916A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11124A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6916A>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 525
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16864
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1045
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 739
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2518
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4058
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3972
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12862
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

DP
type: SiteQuality
SIO_000300: 2.172691e6

MQRankSum
type: SiteQuality
SIO_000300: -2.645e0

VQSLOD
type: SiteQuality
SIO_000300: -1.139e0

QD
type: SiteQuality
SIO_000300: 1.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.342e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.589T>C
hgvsp: ENST00000528455.1:c.589T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8771T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11129T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6911T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2948T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6943T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2948T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000389830
ensembl transcript: ENST00000415148
gene symbol: CD44
hgvsc: ENST00000415148.2:c.906T>C
hgvsp: ENST00000415148.2:c.906T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6911T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18146T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6911T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10052T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11129T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8745
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 740
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16858
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4037
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1470
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17682
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2514
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21528
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12858
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.17159e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.508e0

VQSLOD
type: SiteQuality
SIO_000300: -2.364e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

FS
type: SiteQuality
SIO_000300: 6.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2964delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3302delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2964delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11145delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+15delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8755delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-3302delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+15delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.504+15delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10036delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+15delA
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 669
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8569
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 327
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 739
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16636
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1467
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4484
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 891
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 399
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17512
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12853
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8482
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1970
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4928
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

DP
type: SiteQuality
SIO_000300: 2.154345e6

QD
type: SiteQuality
SIO_000300: 2.355e1

MQ
type: SiteQuality
SIO_000300: 6.008e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2966A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+17A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6893A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6893A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11147A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1036+17A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6893A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1036+17A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2966A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10034A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4900A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 901
bin: 9.75e1
variant carriers: 155

GenotypeDepth
all individuals: 17408
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 171
bin: 9.25e1
variant carriers: 38

GenotypeDepth
all individuals: 175
bin: 8.75e1
variant carriers: 52

GenotypeDepth
all individuals: 407
bin: 7.25e1
variant carriers: 76

GenotypeDepth
all individuals: 1039
bin: 5.75e1
variant carriers: 64

GenotypeDepth
all individuals: 947
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1460
bin: 5.25e1
variant carriers: 50

GenotypeDepth
all individuals: 249
bin: 8.25e1
variant carriers: 57

GenotypeDepth
all individuals: 3875
bin: 2.25e1
variant carriers: 8

GenotypeDepth
all individuals: 416
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 544
bin: 6.75e1
variant carriers: 91

GenotypeDepth
all individuals: 274
bin: 7.75e1
variant carriers: 51

GenotypeDepth
all individuals: 280
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 6.25e1
variant carriers: 71

GenotypeDepth
all individuals: 8414
bin: 3.75e1
variant carriers: 22

GenotypeDepth
all individuals: 16457
bin: 3.25e1
variant carriers: 19

GenotypeDepth
all individuals: 2468
bin: 4.75e1
variant carriers: 48

GenotypeDepth
all individuals: 4418
bin: 4.25e1
variant carriers: 34

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 2.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12990
bin: 9.75e1
variant carriers: 850

GenotypeQuality
all individuals: 8364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 39
allele frequency: 3.392484342379958e-3
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 834
allele frequency: 8.08766485647789e-2
allele num: 10312
num of homozygotes: 39

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.266682785299806e-4
allele num: 66176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.147896e6

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.469999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.38e0

QD
type: SiteQuality
SIO_000300: 1.756e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.590+21A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+21A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.52+21A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3296A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6889A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.504+21A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6921A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2970A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6889A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11151A>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1036+21A>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 483
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16434
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4439
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8434
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17520
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2478
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3896
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1187
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4978
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3401
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12393
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 2.10855e6

QD
type: SiteQuality
SIO_000300: 1.608e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1036+36dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6874dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2985dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.590+36dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+36dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+36dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.345+36dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6874dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2985dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10015dupT
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1036+36dupT
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 8184
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1320
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3793
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15341
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 990
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4387
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2472
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2465
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16575
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18172
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12380
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65696
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

FS
type: SiteQuality
SIO_000300: 2.616e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.066099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.176e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2985T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-10015T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18109T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6874T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1036+36T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11166T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+36T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3281T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.504+36T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10015T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8734T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 7710
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15083
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4288
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13603
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3229
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 806
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1431
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2439
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4004
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3988
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 713
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2911
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12372
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528771479239283e-5
allele num: 65412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.00724e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 2.155e0

QD
type: SiteQuality
SIO_000300: 5.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.581e0

MQ
type: SiteQuality
SIO_000300: 6.119e1

VQSLOD
type: SiteQuality
SIO_000300: -3.117e0

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6868C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20468C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6868C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18103C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10009C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+2991C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6868C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8728C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+42C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+42C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1036+42C>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3233
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11569
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7110
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 694
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1428
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5469
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6397
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4157
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13755
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12360
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12497
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.547008547008547e-4
allele num: 8190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.952712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.504e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20468C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4875C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+42C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11172C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-18103C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+2991C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-3275C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2991C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.590+42C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1036+42C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-10009C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 1011
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4157
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1428
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7110
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6397
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5469
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 203
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3233
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11569
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1951
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12360
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4637
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.761493746697199e-4
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65008
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.952712e6

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.504e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.646e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+2995G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+46G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6864G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20464G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+46G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6896G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1036+46G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6864G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+46G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11176G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6864G>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 210
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3137
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6342
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10514
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7006
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1182
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1426
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12056
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2421
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8324
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4137
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12354
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1664
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.888125613346418e-4
allele num: 10190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.494e0

DP
type: SiteQuality
SIO_000300: 1.928993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6860A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.269+50A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000403990
ensembl transcript: ENST00000437706
gene symbol: CD44
hgvsc: ENST00000437706.2:c.1036+50A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6892A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11180A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.590+50A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6860A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1036+50A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8720A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+50A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1036+50A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 457
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9876
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 771
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1291
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3098
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 214
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11353
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1425
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9698
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 694
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6946
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6308
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2887
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3874
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12348
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7059
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.777777777777778e-4
allele num: 11250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.234872808100766e-4
allele num: 8098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.917052e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 5.805e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17716G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+429G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11559G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8341G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.505-44G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1037-47G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9622G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3378G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.270-47G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3378G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6481G>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3378G>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 268
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7560
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15052
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11866
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2391
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2381
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1092
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4477
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8884
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 364
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13761
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 16457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.833622852731133e-3
allele num: 10362
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.48e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.006e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.101363e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6468_668-6466delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17703_290-17701delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2875_141-2873delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9609_668-9607delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.505-31_505-29delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1037-31_1037-29delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+442_113+444delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.270-34_270-32delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1037-34_1037-32delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2875_290-2873delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3391_525+3393delCAA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1037-34_1037-32delCAA
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4476
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 978
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11987
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 945
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15463
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10044
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2393
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18403
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13755
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7589
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 270
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.621e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 1.693e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

MQRankSum
type: SiteQuality
SIO_000300: -3.132e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 2.114012e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.505-29delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2873delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-9607delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1037-32delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1037-32delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6466delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000389830
ensembl transcript: ENST00000415148
gene symbol: CD44
hgvsc: ENST00000415148.2:c.908-32delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6466delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3393delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8326delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20066delA
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1037-29delA
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7578
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12052
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4486
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2393
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10271
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15593
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7583
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18805
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 390
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4254
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.925e-1

MQ
type: SiteQuality
SIO_000300: 5.997e1

QD
type: SiteQuality
SIO_000300: 2.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.347e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.118565e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11592C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1037-11C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8308C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1037-14C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2855C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3411C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3411C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1037-14C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+462C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3411C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2855C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.591-14C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 16153
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7605
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2395
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4496
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12240
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5346
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13772
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7750
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: -8.606e-1

DP
type: SiteQuality
SIO_000300: 2.133266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e0

QD
type: SiteQuality
SIO_000300: 1.081e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6443T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3416T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3416T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11597T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000403990
ensembl transcript: ENST00000437706
gene symbol: CD44
hgvsc: ENST00000437706.2:c.1037-9T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2850T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1037-9T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11690T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1037-9T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2850T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+467T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6443T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4493
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7604
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10608
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12255
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13777
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4305
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19818
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.282e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

DP
type: SiteQuality
SIO_000300: 2.134938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6439A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20039A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4446A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11694A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6471A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11601A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6439A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6439A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11601A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-9580A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17674A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11601A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11601A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 2397
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10603
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4493
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16289
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7609
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4301
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13777
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3676
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19885
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7817
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.136259e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.282A>T
hgvsp: ENSP00000436451.1:p.Asn95Ile
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1049A>T
hgvsp: ENSP00000391008.2:p.Asn350Ile
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6422A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6422A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2829A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9563A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-20022A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+488A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3437A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4429A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11618A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6422A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6454A>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432718
ensembl transcript: ENST00000528455
gene symbol: CD44
hgvsc: ENST00000528455.1:c.603A>T
hgvsp: ENSP00000432718.1:p.Asn202Ile
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4493
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 364
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1431
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7609
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10526
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16451
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5374
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13782
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 129
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3689
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7850
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.635922918434129e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

DP
type: SiteQuality
SIO_000300: 2.139776e6

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

FS
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1062T>C
hgvsp: ENST00000433354.2:c.1062T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11721T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8272T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.292T>C
hgvsp: ENST00000524922.1:c.292T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.371T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11628T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9553T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+498T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2819T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6412T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11628T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525348
gene symbol: CD44
hgvsc: ENST00000525348.1:n.530T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6444T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6412T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12364
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10465
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16518
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4493
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7613
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7888
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5375
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13777
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 2.14073e6

FS
type: SiteQuality
SIO_000300: 1.894e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000403990
ensembl transcript: ENST00000437706
gene symbol: CD44
hgvsc: ENST00000437706.2:c.1063T>G
hgvsp: ENSP00000403990.2:p.Tyr355Asp
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17643T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11632T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6408T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6408T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+502T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8268T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11632T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4415T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11632T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11725T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3451T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9549T>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6440T>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 12369
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16541
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10448
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4494
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7615
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5380
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

DP
type: SiteQuality
SIO_000300: 2.141051e6

FS
type: SiteQuality
SIO_000300: 8.71e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000389830
ensembl transcript: ENST00000415148
gene symbol: CD44
hgvsc: ENST00000415148.2:c.956A>G
hgvsp: ENSP00000389830.2:p.Glu319Gly
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6386A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6418A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11654A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+524A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8246A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6386A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19986A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1088A>G
hgvsp: ENSP00000414567.2:p.Glu363Gly
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3473A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-9527A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11654A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.397A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9527A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 10362
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4498
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12394
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16634
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7881
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4326
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13778
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3708
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.142415e6

QD
type: SiteQuality
SIO_000300: 1.528e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.498e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1093C>T
hgvsp: ENSP00000391008.2:p.Pro365Ser
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2785C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9519C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436451
ensembl transcript: ENST00000524922
gene symbol: CD44
hgvsc: ENST00000524922.1:c.326C>T
hgvsp: ENSP00000436451.1:p.Pro110Ser
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11662C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6410C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3481C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6378C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11662C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11755C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4385C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3481C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11662C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+532C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 641
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4499
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12398
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10325
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16663
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 940
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 451
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2396
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7624
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13777
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3156
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 2.142872e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17609C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4381C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000389830
ensembl transcript: ENST00000415148
gene symbol: CD44
hgvsc: ENST00000415148.2:c.968C>G
hgvsp: ENSP00000389830.2:p.Pro323Arg
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11666C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1097C>G
hgvsp: ENSP00000391008.2:p.Pro366Arg
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.116C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11666C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9515C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6406C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2781C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8234C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6374C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3485C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+536C>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 12394
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10309
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7627
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1095
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16673
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4497
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1430
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 263
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 423
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 944
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 720
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2388
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13778
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2101
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20000
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.631701631701632e-3
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 2.14333e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000391008
ensembl transcript: ENST00000449691
gene symbol: CD44
hgvsc: ENST00000449691.2:c.1103T>C
hgvsp: ENSP00000391008.2:p.Ile368Thr
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17603T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11672T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8228T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3491T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6368T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11672T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.122T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6400T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2775T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11765T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6368T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19968T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 2387
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7638
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4498
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12403
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1428
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10293
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 719
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16689
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13768
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3703
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7888
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.668e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

DP
type: SiteQuality
SIO_000300: 2.143206e6

VQSLOD
type: SiteQuality
SIO_000300: -1.13e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11772T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9502T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.129T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2768T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6361T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000431860
ensembl transcript: ENST00000528672
gene symbol: CD44
hgvsc: ENST00000528672.1:c.66T>C
hgvsp: ENST00000528672.1:c.66T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11679T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11679T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6361T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6393T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19961T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8221T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6361T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 4497
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16702
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10272
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 719
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7639
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2387
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12412
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5385
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13767
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.617e0

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 2.14336e6

VQSLOD
type: SiteQuality
SIO_000300: -3.642e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.075e0

MQ
type: SiteQuality
SIO_000300: 5.847e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2767G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-9501G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6392G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11773G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11680G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525293
gene symbol: CD44
hgvsc: ENST00000525293.1:n.125G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+550G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.130G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3499G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6360G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6360G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11680G>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4367G>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16708
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12412
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4500
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2387
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10267
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7636
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 719
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20051
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7874
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.552e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 2.143469e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534296
gene symbol: CD44
hgvsc: ENST00000534296.1:n.430A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9494A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3506A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000534082
gene symbol: CD44
hgvsc: ENST00000534082.1:n.137A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+557A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11687A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11687A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11687A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1121A>G
hgvsp: ENSP00000414567.2:p.His374Arg
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11780A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3506A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8213A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2760A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1427
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 719
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 940
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4497
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2387
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7635
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16703
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10270
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12407
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20072
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 118
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4322
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.143157e6

QD
type: SiteQuality
SIO_000300: 1.408e1

FS
type: SiteQuality
SIO_000300: 9.563000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.957e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3510G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9490G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11691G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11691G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2756G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8209G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11784G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436549
ensembl transcript: ENST00000531110
gene symbol: CD44
hgvsc: ENST00000531110.1:c.290-2756G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6349G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6349G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6381G>A
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1122G>A
hgvsp: ENST00000428726.2:c.1122G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 312
bin: 8.75e1
variant carriers: 90

GenotypeDepth
all individuals: 866
bin: 6.25e1
variant carriers: 215

GenotypeDepth
all individuals: 7385
bin: 3.75e1
variant carriers: 98

GenotypeDepth
all individuals: 564
bin: 7.25e1
variant carriers: 156

GenotypeDepth
all individuals: 526
bin: 7.75e1
variant carriers: 173

GenotypeDepth
all individuals: 287
bin: 9.25e1
variant carriers: 93

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1470
bin: 5.25e1
variant carriers: 203

GenotypeDepth
all individuals: 447
bin: 8.25e1
variant carriers: 134

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1030
bin: 5.75e1
variant carriers: 202

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 12

GenotypeDepth
all individuals: 12074
bin: 3.25e1
variant carriers: 50

GenotypeDepth
all individuals: 9952
bin: 2.25e1
variant carriers: 22

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 2366
bin: 4.75e1
variant carriers: 174

GenotypeDepth
all individuals: 756
bin: 6.75e1
variant carriers: 178

GenotypeDepth
all individuals: 1656
bin: 9.75e1
variant carriers: 828

GenotypeDepth
all individuals: 16362
bin: 2.75e1
variant carriers: 29

GenotypeDepth
all individuals: 4403
bin: 4.25e1
variant carriers: 166

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19750
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4172
bin: 8.25e1
variant carriers: 3

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

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7679
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5218
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3583
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14920
bin: 9.75e1
variant carriers: 2795

GenotypeQuality
all individuals: 2026
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3010
bin: 9.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 1.064946752662367e-3
allele num: 66670
num of homozygotes: 0

Latino
type: Population
allele count: 175
allele frequency: 1.515939015939016e-2
allele num: 11544
num of homozygotes: 1

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

South Asian
type: Population
allele count: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 3027
allele frequency: 2.911136757068667e-1
allele num: 10398
num of homozygotes: 468

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 16
allele frequency: 1.769911504424779e-2
allele num: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.374e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.256595e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6336C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8196C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17571C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3523C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9477C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11704C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19936C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6336C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436623
ensembl transcript: ENST00000525685
gene symbol: CD44
hgvsc: ENST00000525685.1:c.525+3523C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6336C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11704C>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 7616
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4470
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 398
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 728
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1373
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2355
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 119
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 632
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17048
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10107
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 356
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3723
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5415
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13084
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2097
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 24
allele frequency: 2.791996277338297e-3
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.123923e6

FS
type: SiteQuality
SIO_000300: 2.585e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6335C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11705C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1139C>G
hgvsp: ENSP00000414567.2:p.Pro380Arg
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6335C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6335C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4342C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6335C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19935C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11798C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9476C>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11705C>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7613
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10113
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4467
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17063
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2351
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1371
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13064
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2098
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 20512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.123226e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 8.648999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11712T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6328T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9469T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3531T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11712T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11712T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19928T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11805T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3531T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6328T>C
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11712T>C
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 12516
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7617
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10115
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1369
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2347
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4465
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17051
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 931
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 724
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13058
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.508e1

DP
type: SiteQuality
SIO_000300: 2.122702e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.565e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000435321
ensembl transcript: ENST00000533222
gene symbol: CD44
hgvsc: ENST00000533222.1:c.292+3533C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000353280
ensembl transcript: ENST00000360158
gene symbol: CD44
hgvsc: ENST00000360158.4:c.668-6326C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000414567
ensembl transcript: ENST00000433354
gene symbol: CD44
hgvsc: ENST00000433354.2:c.1148C>T
hgvsp: ENSP00000414567.2:p.Thr383Ile
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000528086
gene symbol: CD44
hgvsc: ENST00000528086.1:n.501-6358C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11807C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6326C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6326C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000392331
ensembl transcript: ENST00000433892
gene symbol: CD44
hgvsc: ENST00000433892.2:c.668-6326C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434418
ensembl transcript: ENST00000526553
gene symbol: CD44
hgvsc: ENST00000526553.1:c.113+584C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11714C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8186C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 7617
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17050
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12513
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10086
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4471
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1369
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2348
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 931
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 723
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20525
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7981
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.829e1

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 2.122514e6

FS
type: SiteQuality
SIO_000300: 2.159e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000395953
ensembl transcript: ENST00000425428
gene symbol: CD44
hgvsc: ENST00000425428.2:c.*290+11718C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000279452
ensembl transcript: ENST00000279452
gene symbol: CD44
hgvsc: ENST00000279452.6:c.454+11811C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11718C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432704
ensembl transcript: ENST00000526669
gene symbol: CD44
hgvsc: ENST00000526669.2:c.290-17557C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8182C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9463C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6322C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398632
ensembl transcript: ENST00000428726
gene symbol: CD44
hgvsc: ENST00000428726.2:c.1149C>T
hgvsp: ENST00000428726.2:c.1149C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000432405
ensembl transcript: ENST00000525211
gene symbol: CD44
hgvsc: ENST00000525211.1:c.605-4329C>T
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl transcript: ENST00000525241
gene symbol: CD44
hgvsc: ENST00000525241.1:n.141-2729C>T
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 923
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7614
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2346
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17054
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1370
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12509
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 723
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4470
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10028
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13055
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3151
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.061e1

DP
type: SiteQuality
SIO_000300: 2.121772e6

FS
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.943e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000431860
ensembl transcript: ENST00000528672
gene symbol: CD44
hgvsc: ENST00000528672.1:c.106A>G
hgvsp: ENSP00000431860.1:p.Thr36Ala
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278386
ensembl transcript: ENST00000278386
gene symbol: CD44
hgvsc: ENST00000278386.6:c.234-19921A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000309732
ensembl transcript: ENST00000352818
gene symbol: CD44
hgvsc: ENST00000352818.4:c.667+11719A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000263398
ensembl transcript: ENST00000263398
gene symbol: CD44
hgvsc: ENST00000263398.6:c.667+11719A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434465
ensembl transcript: ENST00000526000
gene symbol: CD44
hgvsc: ENST00000526000.1:c.509-9462A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000434530
ensembl transcript: ENST00000527889
gene symbol: CD44
hgvsc: ENST00000527889.1:c.442-6321A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000398099
ensembl transcript: ENST00000442151
gene symbol: CD44
hgvsc: ENST00000442151.2:c.665+11719A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000404447
ensembl transcript: ENST00000434472
gene symbol: CD44
hgvsc: ENST00000434472.2:c.668-9462A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000436980
ensembl transcript: ENST00000525688
gene symbol: CD44
hgvsc: ENST00000525688.1:c.310+3538A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000433189
ensembl transcript: ENST00000531873
gene symbol: CD44
hgvsc: ENST00000531873.1:c.430-8181A>G
variant of: http://identifiers.org/hgnc/1681

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000026508
ensembl protein: ENSP00000278385
ensembl transcript: ENST00000278385
gene symbol: CD44
hgvsc: ENST00000278385.6:c.176-6321A>G
variant of: http://identifiers.org/hgnc/1681

GenotypeDepth
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1370
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4466
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10033
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17055
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 723
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2346
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 633
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7616
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 258
bin: 8.75e1
variant carriers: 0