8-93074865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074865
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074865
    reference: chr 8
allele count: 3
allele frequency: 2.487026014292109e-5
allele num: 120626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.161C>T
  hgvsp: ENSP00000429034.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32710C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32391C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-85C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.161C>T
  hgvsp: ENSP00000428133.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-183C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.161C>T
  hgvsp: ENSP00000428297.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-15C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13328C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr54Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

8-93074900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074900
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074900
    reference: chr 8
allele count: 1
allele frequency: 8.565017044383918e-6
allele num: 116754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-45C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.419C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.126C>T
  hgvsp: ENST00000517493.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.126C>T
  hgvsp: ENST00000518449.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-120C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-218C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8552C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-50C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.126C>T
  hgvsp: ENST00000524215.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32356C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13293C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13293C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala42Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-93074902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074902
    reference: chr 8
allele count: 4
allele frequency: 3.477051460361614e-5
allele num: 115040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32673G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.124G>A
  hgvsp: ENSP00000428133.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32354G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-122G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-122G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32673G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-52G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-220G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-122G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-47G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.417G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.124G>A
  hgvsp: ENSP00000428297.1:p.Ala42Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13291G>A
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala42Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

8-93074903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074903
    reference: chr 8
allele count: 2
allele frequency: 1.725714877387958e-5
allele num: 115894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-221C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-48C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-48C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32672C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.123C>T
  hgvsp: ENST00000518449.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8549C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13290C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32353C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.123C>T
  hgvsp: ENST00000517493.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.123C>T
  hgvsp: ENST00000524215.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala41Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

8-93074904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074904
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074904
    reference: chr 8
allele count: 1
allele frequency: 8.704280765280366e-6
allele num: 114886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-124C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-124C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.415C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.122C>G
  hgvsp: ENSP00000429034.1:p.Ala41Gly
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.122C>G
  hgvsp: ENSP00000428297.1:p.Ala41Gly
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-49C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-222C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40181C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32671C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-124C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13289C>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13289C>G
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala41Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-93074910-C-CCGGAGGCAGGGTGCTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074910
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074928
    reference: chr 8
allele count: 780
allele frequency: 6.8835271899324e-3
allele num: 113314
alternate allele: CCGGAGGCAGGGTGCTGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsp: ENSP00000428133.1:p.Ala33_Ser38dup
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsp: ENSP00000429034.1:p.Ala33_Ser38dup
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsp: ENSP00000428297.1:p.Ala33_Ser38dup
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33_Ser38dup
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-93074911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074911
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074911
    reference: chr 8
allele count: 1716
allele frequency: 1.522032214574611e-2
allele num: 112744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32664G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-131G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-131G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-56G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.408G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.115G>A
  hgvsp: ENSP00000429034.1:p.Gly39Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-229G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.115G>A
  hgvsp: ENSP00000428133.1:p.Gly39Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.115G>A
  hgvsp: ENSP00000428297.1:p.Gly39Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-61G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32345G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13282G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8541G>A
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly39Ser
num of homozygotes: 20
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

8-93074912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074912
    reference: chr 8
allele count: 10
allele frequency: 8.922198429693076e-5
allele num: 112080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.114C>T
  hgvsp: ENST00000517493.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-230C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40173C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-132C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-57C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.114C>T
  hgvsp: ENST00000524215.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32663C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.114C>T
  hgvsp: ENST00000518449.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-62C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13281C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-132C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32344C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-132C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser38Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-93074913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074913
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074913
    reference: chr 8
allele count: 3
allele frequency: 2.696823142338325e-5
allele num: 111242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-63C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32343C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32343C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.113C>T
  hgvsp: ENSP00000429034.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.113C>T
  hgvsp: ENSP00000428133.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.406C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40172C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32343C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13280C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.113C>T
  hgvsp: ENSP00000428297.1:p.Ser38Phe
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-133C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-58C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13280C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser38Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

8-93074920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074920
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074920
    reference: chr 8
allele count: 1
allele frequency: 9.516196566556279e-6
allele num: 105084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-140C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.106C>T
  hgvsp: ENSP00000428133.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32336C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32655C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-70C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.106C>T
  hgvsp: ENSP00000428297.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-140C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-65C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.399C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.106C>T
  hgvsp: ENSP00000429034.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8532C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-238C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13273C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-140C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro36Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-93074927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074927
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074927
    reference: chr 8
allele count: 1
allele frequency: 1.02821419758164e-5
allele num: 97256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.99C>T
  hgvsp: ENST00000518449.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40158C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.99C>T
  hgvsp: ENST00000524215.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32648C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32329C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-147C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40158C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32329C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-72C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-77C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13266C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-147C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13266C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

8-93074929-C-CGGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074929
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074933
    reference: chr 8
allele count: 1
allele frequency: 1.044735577425354e-5
allele num: 95718
alternate allele: CGGAG
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-150_-149insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13263_376+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-150_-149insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-80_377-79insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-75_-75-74insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.96_97insCTCC
  hgvsp: ENSP00000429034.1:p.Ala33LeufsTer?
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.389_390insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.96_97insCTCC
  hgvsp: ENSP00000428297.1:p.Ala33LeufsTer?
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13263_515+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32326_235+32327insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40155_372+40156insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40155_-24+40156insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.96_97insCTCC
  hgvsp: ENSP00000428133.1:p.Ala33LeufsTer?
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13263_88+13264insCTCC
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33LeufsTer?
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

8-93074929-C-CGGAGGCAGGGTGCTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074929
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074945
    reference: chr 8
allele count: 2
allele frequency: 2.089471154850707e-5
allele num: 95718
alternate allele: CGGAGGCAGGGTGCTGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsp: ENSP00000428297.1:p.Ala33ProfsTer?
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsp: ENSP00000428133.1:p.Ala33ProfsTer?
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsp: ENSP00000429034.1:p.Ala33ProfsTer?
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33ProfsTer?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-93074929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074929
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074929
    reference: chr 8
allele count: 6
allele frequency: 6.268413464552121e-5
allele num: 95718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-149G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-79G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-74G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-74G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.97G>A
  hgvsp: ENSP00000428297.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.97G>A
  hgvsp: ENSP00000428133.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-149G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-247G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.390G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13264G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.97G>A
  hgvsp: ENSP00000429034.1:p.Ala33Thr
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-93074930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074930
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074930
    reference: chr 8
allele count: 5
allele frequency: 5.38874399155045e-5
allele num: 92786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-75C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-75C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.389C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.96C>T
  hgvsp: ENST00000517493.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32645C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32326C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8522C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-248C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.96C>T
  hgvsp: ENST00000518449.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32645C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13263C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg32Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

8-93074930-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074930
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074929
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 92786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.95delG
  hgvsp: ENSP00000429034.1:p.Arg32ProfsTer15
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13262delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-249delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.95delG
  hgvsp: ENSP00000428133.1:p.Arg32ProfsTer15
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32644delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40154delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-151delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-76delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13262delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13262delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.95delG
  hgvsp: ENSP00000428297.1:p.Arg32ProfsTer15
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13262delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32644delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13262delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-151delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32325delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-151delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-81delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.388delG
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13262delG
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg32ProfsTer15
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: GC
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

8-93074931-C-CAGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074931
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074934
    reference: chr 8
allele count: 1
allele frequency: 1.099432692730551e-5
allele num: 90956
alternate allele: CAGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32324_235+32325insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13261_376+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40153_372+40154insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32643_121+32644insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.94_95insCCT
  hgvsp: ENSP00000428297.1:p.Arg32delinsProCys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13261_88+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13261_88+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-152_-151insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-152_-151insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-152_-151insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-152_-151insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-250_-249insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13261_515+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13261_88+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13261_88+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.387_388insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13261_88+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32643_-24+32644insCCT
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.94_95insCCT
  hgvsp: ENSP00000429034.1:p.Arg32delinsProCys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13261_435+13262insCCT
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg32delinsProCys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-93074932-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074932
    reference: chr 8
allele count: 4
allele frequency: 4.410240578623564e-5
allele num: 90698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32643C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32324C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.94C>T
  hgvsp: ENSP00000428133.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.94C>T
  hgvsp: ENSP00000428297.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-250C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-152C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.387C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-152C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13261C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.94C>T
  hgvsp: ENSP00000429034.1:p.Arg32Cys
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg32Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

8-93074932-G-GGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074934
    reference: chr 8
allele count: 1
allele frequency: 1.102560144655891e-5
allele num: 90698
alternate allele: GGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13260_88+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32323_-92+32324insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.93_94insAC
  hgvsp: ENSP00000428297.1:p.Arg32ThrfsTer16
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-251_-250insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.93_94insAC
  hgvsp: ENSP00000429034.1:p.Arg32ThrfsTer16
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-153_-152insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13260_515+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13260_88+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13260_88+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32323_-24+32324insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13260_88+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-153_-152insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8519_-24+8520insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13260_88+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-153_-152insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-83_377-82insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32642_121+32643insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40152_-24+40153insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-153_-152insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13260_435+13261insAC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-78_-75-77insAC
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg32ThrfsTer16
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

8-93074932-GTGCGCCTGCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074922
    reference: chr 8
allele count: 1
allele frequency: 1.102560144655891e-5
allele num: 90698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 5_prime_UTR_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-157-5_-153delGGCAGGCGCA
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GTGCGCCTGCC
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

8-93074935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074935
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074935
    reference: chr 8
allele count: 1
allele frequency: 1.122107767229965e-5
allele num: 89118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32640G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.91G>A
  hgvsp: ENSP00000428133.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.91G>A
  hgvsp: ENSP00000428297.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-85G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.91G>A
  hgvsp: ENSP00000429034.1:p.Ala31Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-253G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32321G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32321G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-155G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40150G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.384G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13258G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-80G>A
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala31Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

8-93074936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074936
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074936
    reference: chr 8
allele count: 2
allele frequency: 2.326609432074638e-5
allele num: 85962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.90C>T
  hgvsp: ENST00000524215.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.383C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32320C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-254C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-81C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13257C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32320C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.90C>T
  hgvsp: ENST00000518449.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40149C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.90C>T
  hgvsp: ENST00000517493.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.383C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/8-93074943-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074943
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074943
    reference: chr 8
allele count: 11
allele frequency: 1.381250156960245e-4
allele num: 79638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-88T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-6T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-6T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32632T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+32313T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-6T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-88T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-6T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13250T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-6T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-6T>G
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.382-6T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

8-93074943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074943
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074943
    reference: chr 8
allele count: 1
allele frequency: 1.25568196087295e-5
allele num: 79638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32632T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32313T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40142T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8509T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-157-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13250T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-6T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-88T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32313T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13250T>C
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: n.382-6T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-93074951-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074951
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074951
    reference: chr 8
allele count: 1
allele frequency: 1.358178953658934e-5
allele num: 73628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-171T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40134T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-101T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32305T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32624T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-14T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-14T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-14T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8501T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40134T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32624T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-14T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32305T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13242T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13242T>G
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

8-93074951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074951
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074951
    reference: chr 8
allele count: 1
allele frequency: 1.358178953658934e-5
allele num: 73628
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-14T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-14T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-171T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40134T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-157-14T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32624T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-96T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8501T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-101T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-14T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+13242T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-14T>C
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-93074957-GGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074957
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074955
    reference: chr 8
allele count: 10
allele frequency: 1.427266499200731e-4
allele num: 70064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-22_89-21delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-104_-75-103delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-179_-178delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-109_377-108delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-22_-255-21delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-22_89-21delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-22_382-21delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40126_-24+40127delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13234_515+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13234_376+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8493_-24+8494delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13234_88+13235delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-22_-157-21delTC
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-22_89-21delTC
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
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: GGA
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

8-93074962-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074962
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074962
    reference: chr 8
allele count: 1
allele frequency: 1.48942508191838e-5
allele num: 67140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-25C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40123C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-182C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8490C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-107C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-25C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-25C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32294C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-25C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32294C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13231C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32613C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

8-93074969-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074969
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074969
    reference: chr 8
allele count: 1
allele frequency: 1.740462266778056e-5
allele num: 57456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32287G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40116G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-189G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-32G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-32G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-119G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-32G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8483G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40116G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-32G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-114G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+13224G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-32G>C
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-93074972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074972
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074972
    reference: chr 8
allele count: 1
allele frequency: 1.808907058355342e-5
allele num: 55282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-122G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-35G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-35G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-157-35G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-192G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40113G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-35G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8480G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-117G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-35G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13221G>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-93074973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074973
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074973
    reference: chr 8
allele count: 2
allele frequency: 3.675794890645102e-5
allele num: 54410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8479C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32602C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-157-36C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-36C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-36C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40112C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-118C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-123C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-193C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+32283C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-36C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13220C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

8-93074974-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074974
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074974
    reference: chr 8
allele count: 1
allele frequency: 1.904907040536422e-5
allele num: 52496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32282C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-37C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32601C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-37C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-37C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-37C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32601C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+40111C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+40111C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-124C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13219C>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-75-119C>A
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

8-93074976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93074976
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93074976
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 51780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.89-39A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.89-39A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+32599A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.377-126A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000379520
  ensembl transcript: ENST00000396218
  gene symbol: RUNX1T1
  hgvsc: ENST00000396218.1:c.-196A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.89-39A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430637
  ensembl transcript: ENST00000521733
  gene symbol: RUNX1T1
  hgvsc: ENST00000521733.1:c.-157-39A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.382-39A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-75-121A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+32280A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+32599A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+13217A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429940
  ensembl transcript: ENST00000517792
  gene symbol: RUNX1T1
  hgvsc: ENST00000517792.1:c.-24+8476A>G
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-93088150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088150
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088150
    reference: chr 8
allele count: 2
allele frequency: 1.674368762976358e-5
allele num: 119448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-76+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26935T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19106T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.381+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13213T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26935T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-158+43T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+43T>C
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

8-93088151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088151
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088151
    reference: chr 8
allele count: 95357
allele frequency: 7.926731948993333e-1
allele num: 120298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26934G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19105G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-76+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13214G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26934G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13214G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19424G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+42G>A
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 38164
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

8-93088154-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088154
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088155
    reference: chr 8
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-158+38_-158+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+38_376+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+38_515+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26930_372+26931insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13218_-255-13217insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19101_-24+19102insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+38_376+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19420_121+19421insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+38_-76+39insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+19101_235+19102insA
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+38_88+39insA
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/8-93088155-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088155
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088155
    reference: chr 8
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19101T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19420T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26930T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13218T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19101T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26930T>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+38T>G
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

8-93088158-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088158
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088158
    reference: chr 8
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19417T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26927T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26927T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13221T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-76+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19098T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.381+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+35T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+35T>C
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

8-93088161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088161
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088161
    reference: chr 8
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26924A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-76+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19414A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26924A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19095A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+32A>G
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-93088163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088163
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088163
    reference: chr 8
allele count: 23
allele frequency: 1.907985333399698e-4
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19412C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.381+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26922C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26922C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+19093C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19093C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+30C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+30C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

8-93088167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088167
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088167
    reference: chr 8
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.381+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26918T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13230T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13230T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19089T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-158+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.515+26T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26918T>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+26T>C
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

8-93088184-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088184
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088184
    reference: chr 8
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.376+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19391C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.376+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13247C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.435+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19072C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19391C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26901C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.88+9C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-76+9C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-93088195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088195
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088195
    reference: chr 8
allele count: 2
allele frequency: 1.651118632873772e-5
allele num: 121130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.86A>G
  hgvsp: ENSP00000429653.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.86A>G
  hgvsp: ENSP00000429666.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-78A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19380A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.86A>G
  hgvsp: ENSP00000430070.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.86A>G
  hgvsp: ENSP00000428408.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.86A>G
  hgvsp: ENSP00000430080.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.86A>G
  hgvsp: ENSP00000429506.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.86A>G
  hgvsp: ENSP00000429532.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.86A>G
  hgvsp: ENSP00000430204.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.86A>G
  hgvsp: ENSP00000429034.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.86A>G
  hgvsp: ENSP00000428297.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26890A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.86A>G
  hgvsp: ENSP00000431094.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.86A>G
  hgvsp: ENSP00000429587.1:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.374A>G
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.86A>G
  hgvsp: ENSP00000265814.3:p.Gln29Arg
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln29Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

8-93088219-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088219
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088219
    reference: chr 8
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13282A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.62A>C
  hgvsp: ENSP00000428133.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-102A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.62A>C
  hgvsp: ENSP00000429653.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26866A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19356A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.62A>C
  hgvsp: ENSP00000429375.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.62A>C
  hgvsp: ENSP00000429118.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.355A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.62A>C
  hgvsp: ENSP00000430080.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.62A>C
  hgvsp: ENSP00000428408.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.62A>C
  hgvsp: ENSP00000429532.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-184A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.350A>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.62A>C
  hgvsp: ENSP00000430204.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.62A>C
  hgvsp: ENSP00000429666.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.62A>C
  hgvsp: ENSP00000429857.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.62A>C
  hgvsp: ENSP00000431094.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.62A>C
  hgvsp: ENSP00000430084.1:p.Lys21Thr
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys21Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

8-93088222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088222
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088222
    reference: chr 8
allele count: 29
allele frequency: 2.389978572605901e-4
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.59G>A
  hgvsp: ENSP00000428133.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.59G>A
  hgvsp: ENSP00000429857.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.59G>A
  hgvsp: ENSP00000428408.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13285G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.59G>A
  hgvsp: ENSP00000265814.3:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.59G>A
  hgvsp: ENSP00000429034.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.59G>A
  hgvsp: ENSP00000429118.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19353G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.59G>A
  hgvsp: ENSP00000428297.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.59G>A
  hgvsp: ENSP00000428543.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.59G>A
  hgvsp: ENSP00000429506.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.59G>A
  hgvsp: ENSP00000431094.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13285G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19353G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.59G>A
  hgvsp: ENSP00000429375.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.59G>A
  hgvsp: ENSP00000430204.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.486G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19034G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.59G>A
  hgvsp: ENSP00000429532.1:p.Arg20Gln
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg20Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-93088223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088223
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088223
    reference: chr 8
allele count: 11
allele frequency: 9.065286545466533e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.58C>T
  hgvsp: ENSP00000430080.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.58C>T
  hgvsp: ENSP00000428543.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.58C>T
  hgvsp: ENSP00000429506.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.58C>T
  hgvsp: ENSP00000429653.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-106C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428100
  ensembl transcript: ENST00000520556
  gene symbol: RUNX1T1
  hgvsc: ENST00000520556.1:c.-92+19033C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.58C>T
  hgvsp: ENSP00000429587.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13286C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.58C>T
  hgvsp: ENSP00000428408.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.58C>T
  hgvsp: ENSP00000429034.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26862C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.58C>T
  hgvsp: ENSP00000265814.3:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.58C>T
  hgvsp: ENSP00000429375.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-188C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.58C>T
  hgvsp: ENSP00000428133.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.58C>T
  hgvsp: ENSP00000430204.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.485C>T
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.58C>T
  hgvsp: ENSP00000429532.1:p.Arg20Trp
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.346C>T
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg20Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

8-93088252-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088252
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088252
    reference: chr 8
allele count: 10
allele frequency: 8.241848811525401e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.29G>C
  hgvsp: ENSP00000265814.3:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.29G>C
  hgvsp: ENSP00000429666.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.29G>C
  hgvsp: ENSP00000429587.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-135G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26833G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.29G>C
  hgvsp: ENSP00000429653.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.29G>C
  hgvsp: ENSP00000428297.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.29G>C
  hgvsp: ENSP00000430070.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.317G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.29G>C
  hgvsp: ENSP00000429857.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.29G>C
  hgvsp: ENSP00000429506.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.29G>C
  hgvsp: ENSP00000431094.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.29G>C
  hgvsp: ENSP00000430204.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000353504
  ensembl transcript: ENST00000360348
  gene symbol: RUNX1T1
  hgvsc: ENST00000360348.2:c.-24+19004G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.322G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.29G>C
  hgvsp: ENSP00000428543.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-135G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522065
  gene symbol: RUNX1T1
  hgvsc: ENST00000522065.1:n.317G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.29G>C
  hgvsp: ENSP00000428408.1:p.Arg10Thr
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg10Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-93088252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088252
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088252
    reference: chr 8
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.29G>A
  hgvsp: ENSP00000429118.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.29G>A
  hgvsp: ENSP00000429532.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428475
  ensembl transcript: ENST00000518823
  gene symbol: RUNX1T1
  hgvsc: ENST00000518823.1:c.-135G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.29G>A
  hgvsp: ENSP00000430070.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.29G>A
  hgvsp: ENSP00000429375.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.376G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.29G>A
  hgvsp: ENSP00000429587.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.456G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26833G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.29G>A
  hgvsp: ENSP00000430080.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.29G>A
  hgvsp: ENSP00000431094.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430728
  ensembl transcript: ENST00000518844
  gene symbol: RUNX1T1
  hgvsc: ENST00000518844.1:c.-135G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.29G>A
  hgvsp: ENSP00000429653.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.29G>A
  hgvsp: ENSP00000429034.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.29G>A
  hgvsp: ENSP00000265814.3:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430084
  ensembl transcript: ENST00000519577
  gene symbol: RUNX1T1
  hgvsc: ENST00000519577.1:c.29G>A
  hgvsp: ENSP00000430084.1:p.Arg10Lys
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430334
  ensembl transcript: ENST00000519061
  gene symbol: RUNX1T1
  hgvsc: ENST00000519061.1:c.-217G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13315G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19323G>A
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg10Lys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

8-93088264-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088264
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088264
    reference: chr 8
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.17G>C
  hgvsp: ENSP00000428408.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.17G>C
  hgvsp: ENSP00000429666.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.17G>C
  hgvsp: ENSP00000429506.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.17G>C
  hgvsp: ENSP00000429653.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.17G>C
  hgvsp: ENSP00000430070.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000523290
  gene symbol: RUNX1T1
  hgvsc: ENST00000523290.1:n.235+18992G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429857
  ensembl transcript: ENST00000520428
  gene symbol: RUNX1T1
  hgvsc: ENST00000520428.1:c.17G>C
  hgvsp: ENSP00000429857.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.17G>C
  hgvsp: ENSP00000431094.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.17G>C
  hgvsp: ENSP00000430204.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428742
  ensembl transcript: ENST00000520724
  gene symbol: RUNX1T1
  hgvsc: ENST00000520724.1:c.-24+19311G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000518256
  gene symbol: RUNX1T1
  hgvsc: ENST00000518256.1:n.364G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428543
  ensembl transcript: ENST00000523629
  gene symbol: RUNX1T1
  hgvsc: ENST00000523629.1:c.17G>C
  hgvsp: ENSP00000428543.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.17G>C
  hgvsp: ENSP00000429532.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429137
  ensembl transcript: ENST00000521319
  gene symbol: RUNX1T1
  hgvsc: ENST00000521319.1:c.-255-13327G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429034
  ensembl transcript: ENST00000524215
  gene symbol: RUNX1T1
  hgvsc: ENST00000524215.1:c.17G>C
  hgvsp: ENSP00000429034.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000265814
  ensembl transcript: ENST00000265814
  gene symbol: RUNX1T1
  hgvsc: ENST00000265814.3:c.17G>C
  hgvsp: ENSP00000265814.3:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.17G>C
  hgvsp: ENSP00000429587.1:p.Arg6Thr
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000402257
  ensembl transcript: ENST00000436581
  gene symbol: RUNX1T1
  hgvsc: ENST00000436581.2:c.121+19311G>C
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522316
  gene symbol: RUNX1T1
  hgvsc: ENST00000522316.1:n.372+26821G>C
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg6Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

8-93088271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 93088271
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 93088271
    reference: chr 8
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429864
  ensembl transcript: ENST00000518832
  gene symbol: RUNX1T1
  hgvsc: ENST00000518832.1:c.-24+26814G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000431094
  ensembl transcript: ENST00000518992
  gene symbol: RUNX1T1
  hgvsc: ENST00000518992.1:c.10G>A
  hgvsp: ENSP00000431094.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429062
  ensembl transcript: ENST00000518317
  gene symbol: RUNX1T1
  hgvsc: ENST00000518317.1:c.-157-13334G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429375
  ensembl transcript: ENST00000520974
  gene symbol: RUNX1T1
  hgvsc: ENST00000520974.1:c.10G>A
  hgvsp: ENSP00000429375.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429506
  ensembl transcript: ENST00000517919
  gene symbol: RUNX1T1
  hgvsc: ENST00000517919.1:c.10G>A
  hgvsp: ENSP00000429506.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428297
  ensembl transcript: ENST00000517493
  gene symbol: RUNX1T1
  hgvsc: ENST00000517493.1:c.10G>A
  hgvsp: ENSP00000428297.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430080
  ensembl transcript: ENST00000518954
  gene symbol: RUNX1T1
  hgvsc: ENST00000518954.1:c.10G>A
  hgvsp: ENSP00000430080.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429532
  ensembl transcript: ENST00000522467
  gene symbol: RUNX1T1
  hgvsc: ENST00000522467.1:c.10G>A
  hgvsp: ENSP00000429532.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522163
  gene symbol: RUNX1T1
  hgvsc: ENST00000522163.1:n.303G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429666
  ensembl transcript: ENST00000521375
  gene symbol: RUNX1T1
  hgvsc: ENST00000521375.1:c.10G>A
  hgvsp: ENSP00000429666.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430204
  ensembl transcript: ENST00000519847
  gene symbol: RUNX1T1
  hgvsc: ENST00000519847.1:c.10G>A
  hgvsp: ENSP00000430204.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429653
  ensembl transcript: ENST00000521897
  gene symbol: RUNX1T1
  hgvsc: ENST00000521897.1:c.10G>A
  hgvsp: ENSP00000429653.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428133
  ensembl transcript: ENST00000518449
  gene symbol: RUNX1T1
  hgvsc: ENST00000518449.1:c.10G>A
  hgvsp: ENSP00000428133.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429587
  ensembl transcript: ENST00000519422
  gene symbol: RUNX1T1
  hgvsc: ENST00000519422.1:c.10G>A
  hgvsp: ENSP00000429587.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000428408
  ensembl transcript: ENST00000521902
  gene symbol: RUNX1T1
  hgvsc: ENST00000521902.1:c.10G>A
  hgvsp: ENSP00000428408.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000429118
  ensembl transcript: ENST00000523168
  gene symbol: RUNX1T1
  hgvsc: ENST00000523168.1:c.10G>A
  hgvsp: ENSP00000429118.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000520172
  gene symbol: RUNX1T1
  hgvsc: ENST00000520172.1:n.298G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079102
  ensembl transcript: ENST00000522860
  gene symbol: RUNX1T1
  hgvsc: ENST00000522860.1:n.437G>A
  variant of: http://identifiers.org/hgnc/1535
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079102
  ensembl protein: ENSP00000430070
  ensembl transcript: ENST00000520583
  gene symbol: RUNX1T1
  hgvsc: ENST00000520583.1:c.10G>A
  hgvsp: ENSP00000430070.1:p.Val4Ile
  variant of: http://identifiers.org/hgnc/1535
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.Val4Ile
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-85C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.454C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-10C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8587C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-10C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32710C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32391C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32391C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13328C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 424
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 289
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28343
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3366
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7918
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1254
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2717
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 42097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.957e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 7.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.233e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.854143e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-45C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32675C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40185C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32675C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-120C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40185C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-120C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32356C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-120C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13293C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32356C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 308
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26407
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7842
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 174
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1047
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2913
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1609
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 130
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 285
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 863
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14407
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 386
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 425
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3825
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64192
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

DP
type: SiteQuality
SIO_000300: 1.758798e6

FS
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-122G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.124G>A
hgvsp: ENSP00000429034.1:p.Ala42Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32354G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40183G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32354G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-47G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40183G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13291G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8550G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2698
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1117
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3261
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25742
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7995
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 376
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2185
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13529
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 385
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 985
bin: 4.25e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 216
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2486
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 587
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.818181818181818e-4
allele num: 11000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.164456820986678e-5
allele num: 63202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.721575e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-53C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32672C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32353C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40182C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-123C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.416C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32353C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40182C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13290C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2637
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25872
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1098
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 485
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8099
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13396
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2208
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 91
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7667
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.049773755656108e-5
allele num: 11050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566956031213764e-5
allele num: 63818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.266e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 8.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.717733e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40181C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32352C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-54C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-124C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32671C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32352C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.122C>G
hgvsp: ENSP00000428133.1:p.Ala41Gly
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8548C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32352C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13289C>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-49C>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13309
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2596
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8170
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25940
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2242
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3292
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1099
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37436
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7520
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10984
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 3.36e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.713956e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4618
bin: 1.25e1
variant carriers: 87

GenotypeDepth
all individuals: 729
bin: 4.25e1
variant carriers: 33

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 315
bin: 5.25e1
variant carriers: 13

GenotypeDepth
all individuals: 25083
bin: 2.75e1
variant carriers: 142

GenotypeDepth
all individuals: 8955
bin: 2.25e1
variant carriers: 154

GenotypeDepth
all individuals: 2028
bin: 3.75e1
variant carriers: 51

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 395
bin: 4.75e1
variant carriers: 17

GenotypeDepth
all individuals: 150
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 152
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 522
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3301
bin: 7.5e0
variant carriers: 39

GenotypeDepth
all individuals: 11660
bin: 3.25e1
variant carriers: 92

GenotypeDepth
all individuals: 1510
bin: 1.75e1
variant carriers: 162

GenotypeDepth
all individuals: 207
bin: 5.75e1
variant carriers: 6

GenotypeDepth
all individuals: 87
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 462
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 7222
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 35543
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3185
bin: 9.75e1
variant carriers: 797

GenotypeQuality
all individuals: 7020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.457297701364231e-3
allele num: 10702
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 2.245789145352464e-3
allele num: 16030
num of homozygotes: 1

African
type: Population
allele count: 13
allele frequency: 1.410590277777778e-3
allele num: 9216
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.841121495327103e-3
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 621
allele frequency: 9.958625998268066e-3
allele num: 62358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 68
allele frequency: 1.059190031152648e-2
allele num: 6420
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 5.265e1

QD
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.630148e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.13e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-131G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40174G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40174G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32345G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32664G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-131G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-56G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32345G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13282G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 3443
bin: 7.5e0
variant carriers: 12

GenotypeDepth
all individuals: 24845
bin: 2.75e1
variant carriers: 206

GenotypeDepth
all individuals: 153
bin: 6.25e1
variant carriers: 48

GenotypeDepth
all individuals: 765
bin: 4.25e1
variant carriers: 197

GenotypeDepth
all individuals: 551
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 8

GenotypeDepth
all individuals: 1477
bin: 1.75e1
variant carriers: 78

GenotypeDepth
all individuals: 120
bin: 8.75e1
variant carriers: 13

GenotypeDepth
all individuals: 8847
bin: 2.25e1
variant carriers: 128

GenotypeDepth
all individuals: 11543
bin: 3.25e1
variant carriers: 221

GenotypeDepth
all individuals: 154
bin: 6.75e1
variant carriers: 37

GenotypeDepth
all individuals: 137
bin: 7.25e1
variant carriers: 21

GenotypeDepth
all individuals: 439
bin: 4.75e1
variant carriers: 176

GenotypeDepth
all individuals: 2086
bin: 3.75e1
variant carriers: 234

GenotypeDepth
all individuals: 4805
bin: 1.25e1
variant carriers: 38

GenotypeDepth
all individuals: 312
bin: 5.25e1
variant carriers: 139

GenotypeDepth
all individuals: 205
bin: 5.75e1
variant carriers: 100

GenotypeDepth
all individuals: 87
bin: 9.25e1
variant carriers: 8

GenotypeDepth
all individuals: 461
bin: 9.75e1
variant carriers: 37

GenotypeDepth
all individuals: 124
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 101
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1106
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 35321
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3337
bin: 9.75e1
variant carriers: 1681

GenotypeQuality
all individuals: 6941
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 791
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7672
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.841121495327103e-3
allele num: 856
num of homozygotes: 0

Latino
type: Population
allele count: 43
allele frequency: 4.052016584998115e-3
allele num: 10612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 154
allele frequency: 2.405498281786942e-2
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1449
allele frequency: 2.336117112178764e-2
allele num: 62026
num of homozygotes: 20

South Asian
type: Population
allele count: 36
allele frequency: 2.251970474164894e-3
allele num: 15986
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 3.155603917301414e-3
allele num: 9190
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.62655e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32344C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32344C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8540C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-132C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.407C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40173C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32663C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-57C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13281C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8971
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3719
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 257
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 604
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1534
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11408
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 25130
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1872
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5167
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8192
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 281
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621428803061258e-5
allele num: 61674
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.656108597285068e-4
allele num: 15912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.47e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 3.165e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.16e-1

DP
type: SiteQuality
SIO_000300: 1.589525e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-133C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-133C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-133C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-58C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40172C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8539C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32662C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32662C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13280C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13280C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 159
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1807
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1642
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24461
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5740
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 245
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4180
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8920
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11030
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632919660352711e-5
allele num: 61240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.939864209505335e-4
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.565584e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.467e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.325e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-140C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32336C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40165C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40165C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32655C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-65C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13273C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32336C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 20718
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6659
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8873
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7698
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1560
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1120
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9463
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2434
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13968
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.724970675498516e-5
allele num: 57972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6964
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.443865e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.969e0

VQSLOD
type: SiteQuality
SIO_000300: -1.678e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-72C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-245C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-147C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.99C>T
hgvsp: ENST00000517493.1:c.99C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32329C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32648C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.392C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8525C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-147C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13266C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1097
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13113
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1813
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7001
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6573
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3391
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9660
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19875
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7930
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.857079185856485e-5
allele num: 53848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.132e1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 1.274443e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-248_-247insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8522_-24+8523insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32326_-92+32327insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-150_-149insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-150_-149insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32326_-24+32327insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32645_121+32646insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13263_435+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-75_-75-74insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32645_-24+32646insCTCC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13263_88+13264insCTCC
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3485
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13792
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10116
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5926
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7036
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1940
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.885938442969222e-5
allele num: 53024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 3.914e0

QD
type: SiteQuality
SIO_000300: 6.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.245433e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 183
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7036
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 973
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5926
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13792
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1940
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3485
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.771876885938443e-5
allele num: 53024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 3.914e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.245433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

QD
type: SiteQuality
SIO_000300: 6.17e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-149G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32327G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-149G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40156G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40156G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32327G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32327G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8523G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13264G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32646G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32646G>A
variant of: http://identifiers.org/hgnc/1535

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

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3485
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1940
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5926
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13792
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7036
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.771876885938443e-5
allele num: 53024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.629195177582274e-4
allele num: 6138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7814
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.108518414394152e-4
allele num: 14228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.171e0

QD
type: SiteQuality
SIO_000300: 6.17e0

FS
type: SiteQuality
SIO_000300: 3.914e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.245433e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-150C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32326C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40155C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.96C>T
hgvsp: ENST00000524215.1:c.96C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32326C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40155C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13263C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-80C>T
variant of: http://identifiers.org/hgnc/1535

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

GenotypeDepth
all individuals: 15349
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2276
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11122
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4720
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 177
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13774
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3703
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7028
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.69434090138936e-4
allele num: 5902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.78240398459084e-5
allele num: 51398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 1.205e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

DP
type: SiteQuality
SIO_000300: 1.180321e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-151delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40154delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32325delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-76delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32325delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13262delG
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8521delG
variant of: http://identifiers.org/hgnc/1535

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

GenotypeDepth
all individuals: 4720
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15349
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11122
bin: 7.5e0
variant carriers: 5

GenotypeDepth
all individuals: 7028
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13774
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2276
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 3703
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 335
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2557
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1053
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.180321e6

MQ
type: SiteQuality
SIO_000300: 5.521e1

QD
type: SiteQuality
SIO_000300: 1.205e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-77_-75-76insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-77_-75-76insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32324_-92+32325insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-82_377-81insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40153_-24+40154insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32324_-24+32325insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8520_-24+8521insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13261_88+13262insCCT
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: protein_altering_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.94_95insCCT
hgvsp: ENSP00000428133.1:p.Arg32delinsProCys
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2300
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3652
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15367
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7120
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 609
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13769
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11178
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 18284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 573
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.999840012798976e-5
allele num: 50004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.175867e6

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 2.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 4.712e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.013e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40153C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-152C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-82C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-152C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-77C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-77C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32643C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8520C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32324C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40153C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32324C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13261C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15427
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3554
bin: 1.75e1
variant carriers: 3

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11302
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 13842
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 22757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.327668613913967e-4
allele num: 7532
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.323101349563376e-4
allele num: 7558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.709986320109439e-4
allele num: 5848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.005615724027276e-5
allele num: 49860
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

FS
type: SiteQuality
SIO_000300: 3.001e0

DP
type: SiteQuality
SIO_000300: 1.171687e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.93_94insAC
hgvsp: ENSP00000428133.1:p.Arg32ThrfsTer16
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.386_387insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-78_-75-77insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32642_-24+32643insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32323_235+32324insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40152_372+40153insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13260_376+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13260_88+13261insAC
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11302
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3554
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15427
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3258
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.005615724027276e-5
allele num: 49860
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.395e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 3.001e0

DP
type: SiteQuality
SIO_000300: 1.171687e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_acceptor_variant
consequence: 5_prime_UTR_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4413
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3554
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15427
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11302
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 568
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1129
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 384
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.005615724027276e-5
allele num: 49860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 6.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 3.001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

DP
type: SiteQuality
SIO_000300: 1.171687e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32640G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-155G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40150G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-155G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8517G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-155G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32321G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13258G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-80G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13258G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 3677
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17007
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12297
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2681
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12005
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7081
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3438
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 443
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.027821713914913e-5
allele num: 49314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

VQSLOD
type: SiteQuality
SIO_000300: -4.844e-1

DP
type: SiteQuality
SIO_000300: 1.110757e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.558e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32639C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-86C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-156C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-81C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8516C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32320C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32639C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-156C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13257C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40149C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11210
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3651
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17841
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12844
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2897
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6902
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2919
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 124
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2588
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.239264063758532e-5
allele num: 47178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6934
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13306
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.499e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
type: SiteQuality
SIO_000300: 1.076062e6

QD
type: SiteQuality
SIO_000300: 9.06e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32632T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-6T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40142T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8509T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32313T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.382-6T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40142T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-93T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-163T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13250T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32313T>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14675
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3641
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 5560
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20634
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4156
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7795
bin: 2.75e1
variant carriers: 3

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10487
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 7.174744897959184e-4
allele num: 12544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.285923284414575e-5
allele num: 43746
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.582278481012658e-3
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

FS
type: SiteQuality
SIO_000300: 3.235e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.268e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

DP
type: SiteQuality
SIO_000300: 9.64384e5

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-163T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32313T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32632T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.382-6T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13250T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-88T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40142T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-93T>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 117
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3641
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14675
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1791
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20634
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7795
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 111
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4156
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 97
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5560
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4545
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10487
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 616
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.971938775510203e-5
allele num: 12544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

FS
type: SiteQuality
SIO_000300: 3.235e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

DP
type: SiteQuality
SIO_000300: 9.64384e5

VQSLOD
type: SiteQuality
SIO_000300: 9.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-157-14T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32305T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.89-14T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-14T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13242T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-96T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-14T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-96T>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 16265
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5691
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3655
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21921
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1029
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5083
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6183
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 882
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11808
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.241147467503362e-4
allele num: 4462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 8.71233e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.89-14T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-96T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32305T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32305T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40134T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32624T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-14T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32305T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.382-14T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13242T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13242T>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 5083
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1029
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21921
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3655
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 95
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5691
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16265
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 440
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3600
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6183
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3310
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.468526289804987e-5
allele num: 40510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 8.71233e5

QD
type: SiteQuality
SIO_000300: 6.08e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-22_-157-21delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32616_121+32617delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40126_372+40127delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32616_-24+32617delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32297_235+32298delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-104_-75-103delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13234_435+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32297_-24+32298delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-22_-157-21delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13234_88+13235delTC
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32297_-92+32298delTC
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 3689
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22309
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 122
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3726
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 439
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3724
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 16893
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6964
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1404
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.583712277800744e-4
allele num: 38704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 7.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 8.19794e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.876e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32613C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-107C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.377-112C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32294C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-25C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-25C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.382-25C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40123C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13231C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-25C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13231C>T
variant of: http://identifiers.org/hgnc/1535

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

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2908
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17382
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 8202
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3880
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2820
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28986
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1706
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4048
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4801
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 2.320185614849188e-4
allele num: 4310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

DP
type: SiteQuality
SIO_000300: 7.79205e5

FS
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.651e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-114G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32606G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32287G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-32G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32287G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.382-32G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13224G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-32G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32606G>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 1766
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1528
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10686
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19134
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19273
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4766
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11766
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3051
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

QD
type: SiteQuality
SIO_000300: 7.05e0

DP
type: SiteQuality
SIO_000300: 7.0742e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.51e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32284G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32284G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40113G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.89-35G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32284G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-117G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-35G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32603G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13221G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-35G>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+32603G>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18470
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1387
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4770
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10960
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19848
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1699
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4003
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22884
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3744
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.214400514304082e-5
allele num: 31110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

QD
type: SiteQuality
SIO_000300: 5.95e0

DP
type: SiteQuality
SIO_000300: 6.96163e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.62e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40112C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32283C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-157-36C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.89-36C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-36C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.89-36C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+32283C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+32602C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+13220C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-118C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 20176
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4705
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1294
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1668
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18146
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11136
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1631
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3994
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1427
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.527841242900972e-5
allele num: 30638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 6.89663e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429940
ensembl transcript: ENST00000517792
gene symbol: RUNX1T1
hgvsc: ENST00000517792.1:c.-24+8478C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32282C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430637
ensembl transcript: ENST00000521733
gene symbol: RUNX1T1
hgvsc: ENST00000521733.1:c.-157-37C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000379520
ensembl transcript: ENST00000396218
gene symbol: RUNX1T1
hgvsc: ENST00000396218.1:c.-194C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-37C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.89-37C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.89-37C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32282C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-75-119C>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13219C>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11282
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21059
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17187
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 364
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4802
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3973
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1444
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12599
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.379063323646685e-5
allele num: 29594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.299e0

VQSLOD
type: SiteQuality
SIO_000300: -1.416e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

DP
type: SiteQuality
SIO_000300: 6.7753e5

QD
type: SiteQuality
SIO_000300: 1.196e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-157-39A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+40109A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+32280A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-39A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-75-121A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+40109A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-39A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+13217A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+32280A>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 21473
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16749
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1063
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11343
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1560
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4828
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12698
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3950
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4263
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.891999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.66e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.342e-1

DP
type: SiteQuality
SIO_000300: 6.7217e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.675e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13213T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19106T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19106T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19425T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19425T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-76+43T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+43T>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 6300
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1361
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4991
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1671
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5935
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2860
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2125
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4937
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5468
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3912
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6482
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39947
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034993474764029e-5
allele num: 65898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -3.572e0

DP
type: SiteQuality
SIO_000300: 2.766705e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.381+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19424G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19105G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+42G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19105G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.88+42G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2871
bin: 2.25e1
variant carriers: 2619

GenotypeDepth
all individuals: 5299
bin: 4.25e1
variant carriers: 5007

GenotypeDepth
all individuals: 36
bin: 2.5e0
variant carriers: 26

GenotypeDepth
all individuals: 5802
bin: 4.75e1
variant carriers: 5532

GenotypeDepth
all individuals: 3701
bin: 3.25e1
variant carriers: 3374

GenotypeDepth
all individuals: 5341
bin: 5.75e1
variant carriers: 5147

GenotypeDepth
all individuals: 777
bin: 9.25e1
variant carriers: 744

GenotypeDepth
all individuals: 1388
bin: 1.25e1
variant carriers: 1288

GenotypeDepth
all individuals: 4561
bin: 6.25e1
variant carriers: 4408

GenotypeDepth
all individuals: 3004
bin: 2.75e1
variant carriers: 2727

GenotypeDepth
all individuals: 418
bin: 7.5e0
variant carriers: 359

GenotypeDepth
all individuals: 2328
bin: 1.75e1
variant carriers: 2257

GenotypeDepth
all individuals: 5781
bin: 5.25e1
variant carriers: 5516

GenotypeDepth
all individuals: 1049
bin: 8.75e1
variant carriers: 1015

GenotypeDepth
all individuals: 4404
bin: 3.75e1
variant carriers: 4128

GenotypeDepth
all individuals: 3568
bin: 6.75e1
variant carriers: 3464

GenotypeDepth
all individuals: 1331
bin: 8.25e1
variant carriers: 1297

GenotypeDepth
all individuals: 4353
bin: 9.75e1
variant carriers: 4199

GenotypeDepth
all individuals: 1952
bin: 7.75e1
variant carriers: 1890

GenotypeDepth
all individuals: 2726
bin: 7.25e1
variant carriers: 2628

GenotypeQuality
all individuals: 312
bin: 3.25e1
variant carriers: 269

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 11

GenotypeQuality
all individuals: 313
bin: 4.25e1
variant carriers: 283

GenotypeQuality
all individuals: 1001
bin: 6.25e1
variant carriers: 742

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 109

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 75

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 862

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 673

GenotypeQuality
all individuals: 175
bin: 2.25e1
variant carriers: 136

GenotypeQuality
all individuals: 608
bin: 4.75e1
variant carriers: 576

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 451

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 379

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 391

GenotypeQuality
all individuals: 51717
bin: 9.75e1
variant carriers: 49928

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 450

GenotypeQuality
all individuals: 871
bin: 6.75e1
variant carriers: 741

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 735

GenotypeQuality
all individuals: 889
bin: 8.25e1
variant carriers: 766

European (Non-Finnish)
type: Population
allele count: 51689
allele frequency: 7.806590950280916e-1
allele num: 66212
num of homozygotes: 20175

East Asian
type: Population
allele count: 8534
allele frequency: 9.932495344506518e-1
allele num: 8592
num of homozygotes: 4239

African
type: Population
allele count: 6196
allele frequency: 6.014366142496602e-1
allele num: 10302
num of homozygotes: 1853

South Asian
type: Population
allele count: 13514
allele frequency: 8.338886832037516e-1
allele num: 16206
num of homozygotes: 5636

Other
type: Population
allele count: 713
allele frequency: 7.975391498881432e-1
allele num: 894
num of homozygotes: 286

Latino
type: Population
allele count: 9359
allele frequency: 8.131190269331017e-1
allele num: 11510
num of homozygotes: 3787

European (Finnish)
type: Population
allele count: 5352
allele frequency: 8.13126709206928e-1
allele num: 6582
num of homozygotes: 2188

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.461e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 2.877e1

DP
type: SiteQuality
SIO_000300: 3.296822e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13218_-157-13217insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19420_-24+19421insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26930_-24+26931insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+38_435+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19101_-92+19102insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+38_88+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.381+38_381+39insA
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-76+38_-76+39insA
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 1948
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3969
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6072
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1252
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5260
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4495
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3344
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6074
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

QD
type: SiteQuality
SIO_000300: 1.634e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.15e-1

DP
type: SiteQuality
SIO_000300: 3.116715e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19101T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13218T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-76+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.381+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+38T>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19420T>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3434
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1845
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1251
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6074
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6073
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5261
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4496
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3982
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.587e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.433e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

DP
type: SiteQuality
SIO_000300: 3.11724e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19098T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19417T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.435+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19098T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13221T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.88+35T>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4024
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3767
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4511
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6075
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1497
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6072
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5262
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6439
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 177
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 621
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41200
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e0

VQSLOD
type: SiteQuality
SIO_000300: -8.280999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.928e0

MQRankSum
type: SiteQuality
SIO_000300: -1.188e0

QD
type: SiteQuality
SIO_000300: 1.813e1

DP
type: SiteQuality
SIO_000300: 3.119613e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19414A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13224A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19095A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19095A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.381+32A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13224A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+32A>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 4023
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 365
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6075
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 711
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5264
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6074
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4528
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4100
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1172
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1196
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2215
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41199
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5271
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 337
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
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: 16270
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66332
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.847e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 3.122114e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13226C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-76+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19093C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19412C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13226C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+30C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+30C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6078
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1124
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5266
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6433
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4160
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 905
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6075
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2834
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5096
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1036
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4164
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3876
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 2044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2299
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41207
bin: 9.75e1
variant carriers: 23

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.713213349009677e-4
allele num: 66342
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.934235976789168e-4
allele num: 10340
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: 2
allele frequency: 1.230769230769231e-4
allele num: 16250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

FS
type: SiteQuality
SIO_000300: 1.226e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.103e0

QD
type: SiteQuality
SIO_000300: 1.271e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

DP
type: SiteQuality
SIO_000300: 3.124365e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19089T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-76+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-76+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19089T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.376+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19408T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19408T>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.88+26T>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 4555
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 719
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 985
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 344
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4510
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5094
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6076
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4277
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6074
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5267
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41201
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2078
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50652324565368e-5
allele num: 66378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.128101e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.865e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.768e0

QD
type: SiteQuality
SIO_000300: 1.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.515+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26901C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-158+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19072C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-76+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.381+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13247C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.88+9C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19072C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 4036
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6432
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5095
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2048
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4618
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6077
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5495
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4634
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6076
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7384
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2336
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1265
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41203
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504030802550836e-5
allele num: 66488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.318e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 1.4226e1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 3.14238e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.464e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.86A>G
hgvsp: ENSP00000428133.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-160A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.513A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-78A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.86A>G
hgvsp: ENSP00000429375.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19380A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.86A>G
hgvsp: ENSP00000430084.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.86A>G
hgvsp: ENSP00000429857.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26890A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19061A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13258A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.379A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.433A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.86A>G
hgvsp: ENSP00000429118.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19061A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19061A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.86A>G
hgvsp: ENSP00000428543.1:p.Gln29Arg
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13258A>G
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.374A>G
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 6075
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5096
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4699
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2047
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5612
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6077
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4818
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41199
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.25e1
variant carriers: 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: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 16462
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: 3.148107e6

FS
type: SiteQuality
SIO_000300: 4.656e0

QD
type: SiteQuality
SIO_000300: 1.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.62A>C
hgvsp: ENSP00000429506.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19037A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26866A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19356A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.62A>C
hgvsp: ENSP00000429587.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.62A>C
hgvsp: ENSP00000429034.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.62A>C
hgvsp: ENSP00000428297.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19037A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.489A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.350A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.409A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.62A>C
hgvsp: ENSP00000428543.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13282A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.62A>C
hgvsp: ENSP00000265814.3:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19037A>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.62A>C
hgvsp: ENSP00000430070.1:p.Lys21Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-102A>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5652
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6078
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4726
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2047
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 905
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 6079
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4926
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3874
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5095
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41200
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7921
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1372
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 4.679e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.15e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

DP
type: SiteQuality
SIO_000300: 3.151237e6

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.352G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-187G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-105G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19034G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.59G>A
hgvsp: ENSP00000430080.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.59G>A
hgvsp: ENSP00000430070.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-105G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19034G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429587
ensembl transcript: ENST00000519422
gene symbol: RUNX1T1
hgvsc: ENST00000519422.1:c.59G>A
hgvsp: ENSP00000429587.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.59G>A
hgvsp: ENSP00000429666.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429653
ensembl transcript: ENST00000521897
gene symbol: RUNX1T1
hgvsc: ENST00000521897.1:c.59G>A
hgvsp: ENSP00000429653.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.406G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26863G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.347G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.59G>A
hgvsp: ENSP00000430084.1:p.Arg20Gln
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.347G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+26863G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 6075
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6432
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4034
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6077
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3900
bin: 9.75e1
variant carriers: 27

GenotypeDepth
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2046
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5090
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4935
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4727
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5643
bin: 2.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2828
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2311
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41204
bin: 9.75e1
variant carriers: 29

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: 8654
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: 9
allele frequency: 1.349527665317139e-4
allele num: 66690
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
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: 18
allele frequency: 1.554941257774706e-3
allele num: 11576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.154183e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19352C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.58C>T
hgvsp: ENSP00000429118.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.58C>T
hgvsp: ENSP00000429666.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19033C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.58C>T
hgvsp: ENSP00000429857.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-106C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19352C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.405C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26862C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.346C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.351C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430070
ensembl transcript: ENST00000520583
gene symbol: RUNX1T1
hgvsc: ENST00000520583.1:c.58C>T
hgvsp: ENSP00000430070.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13286C>T
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.58C>T
hgvsp: ENSP00000428297.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000431094
ensembl transcript: ENST00000518992
gene symbol: RUNX1T1
hgvsc: ENST00000518992.1:c.58C>T
hgvsp: ENSP00000431094.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.58C>T
hgvsp: ENSP00000430084.1:p.Arg20Trp
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19033C>T
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2832
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6077
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4938
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4728
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6078
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4033
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5643
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3882
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41201
bin: 9.75e1
variant carriers: 11

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

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2432
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2107
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1976
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 8
allele frequency: 7.692307692307692e-4
allele num: 10400
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: 3
allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 3.15248e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19323G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429532
ensembl transcript: ENST00000522467
gene symbol: RUNX1T1
hgvsc: ENST00000522467.1:c.29G>C
hgvsp: ENSP00000429532.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.29G>C
hgvsp: ENSP00000430080.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.29G>C
hgvsp: ENSP00000428133.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.376G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.29G>C
hgvsp: ENSP00000429375.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.456G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19004G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.29G>C
hgvsp: ENSP00000430084.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.29G>C
hgvsp: ENSP00000429118.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19323G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.29G>C
hgvsp: ENSP00000429034.1:p.Arg10Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19004G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13315G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-217G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13315G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26833G>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 5281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 907
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 6076
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3882
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4951
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4036
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6077
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2312
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7923
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1372
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41202
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2425
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.155535012710885e-3
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
type: SiteQuality
SIO_000300: 3.152263e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429506
ensembl transcript: ENST00000517919
gene symbol: RUNX1T1
hgvsc: ENST00000517919.1:c.29G>A
hgvsp: ENSP00000429506.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.29G>A
hgvsp: ENSP00000428133.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430204
ensembl transcript: ENST00000519847
gene symbol: RUNX1T1
hgvsc: ENST00000519847.1:c.29G>A
hgvsp: ENSP00000430204.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428408
ensembl transcript: ENST00000521902
gene symbol: RUNX1T1
hgvsc: ENST00000521902.1:c.29G>A
hgvsp: ENSP00000428408.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.317G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19323G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+19004G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.29G>A
hgvsp: ENSP00000428543.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.322G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429666
ensembl transcript: ENST00000521375
gene symbol: RUNX1T1
hgvsc: ENST00000521375.1:c.29G>A
hgvsp: ENSP00000429666.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.317G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+19004G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26833G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.29G>A
hgvsp: ENSP00000428297.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13315G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.29G>A
hgvsp: ENSP00000429857.1:p.Arg10Lys
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+19004G>A
variant of: http://identifiers.org/hgnc/1535

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

GenotypeDepth
all individuals: 6435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 907
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2833
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6076
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4951
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4036
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4725
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3882
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6077
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7923
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2312
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2425
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1971
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1372
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 8654
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.152263e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.229e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-229G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.17G>C
hgvsp: ENSP00000430084.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+18992G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429118
ensembl transcript: ENST00000523168
gene symbol: RUNX1T1
hgvsc: ENST00000523168.1:c.17G>C
hgvsp: ENSP00000429118.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-147G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429062
ensembl transcript: ENST00000518317
gene symbol: RUNX1T1
hgvsc: ENST00000518317.1:c.-157-13327G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429375
ensembl transcript: ENST00000520974
gene symbol: RUNX1T1
hgvsc: ENST00000520974.1:c.17G>C
hgvsp: ENSP00000429375.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430080
ensembl transcript: ENST00000518954
gene symbol: RUNX1T1
hgvsc: ENST00000518954.1:c.17G>C
hgvsp: ENSP00000430080.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-147G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429864
ensembl transcript: ENST00000518832
gene symbol: RUNX1T1
hgvsc: ENST00000518832.1:c.-24+26821G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.305G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428297
ensembl transcript: ENST00000517493
gene symbol: RUNX1T1
hgvsc: ENST00000517493.1:c.17G>C
hgvsp: ENSP00000428297.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000520172
gene symbol: RUNX1T1
hgvsc: ENST00000520172.1:n.305G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+18992G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428133
ensembl transcript: ENST00000518449
gene symbol: RUNX1T1
hgvsc: ENST00000518449.1:c.17G>C
hgvsp: ENSP00000428133.1:p.Arg6Thr
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522860
gene symbol: RUNX1T1
hgvsc: ENST00000522860.1:n.444G>C
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522163
gene symbol: RUNX1T1
hgvsc: ENST00000522163.1:n.310G>C
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3875
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4729
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5282
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2832
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4942
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6079
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5580
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6076
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 707
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2314
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2413
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 41195
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.150871e6

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e-1

FS
type: SiteQuality
SIO_000300: 8.058999999999999e0

QD
type: SiteQuality
SIO_000300: 1.462e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430084
ensembl transcript: ENST00000519577
gene symbol: RUNX1T1
hgvsc: ENST00000519577.1:c.10G>A
hgvsp: ENSP00000430084.1:p.Val4Ile
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430334
ensembl transcript: ENST00000519061
gene symbol: RUNX1T1
hgvsc: ENST00000519061.1:c.-236G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000430728
ensembl transcript: ENST00000518844
gene symbol: RUNX1T1
hgvsc: ENST00000518844.1:c.-154G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000265814
ensembl transcript: ENST00000265814
gene symbol: RUNX1T1
hgvsc: ENST00000265814.3:c.10G>A
hgvsp: ENSP00000265814.3:p.Val4Ile
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522316
gene symbol: RUNX1T1
hgvsc: ENST00000522316.1:n.372+26814G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000518256
gene symbol: RUNX1T1
hgvsc: ENST00000518256.1:n.357G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429034
ensembl transcript: ENST00000524215
gene symbol: RUNX1T1
hgvsc: ENST00000524215.1:c.10G>A
hgvsp: ENSP00000429034.1:p.Val4Ile
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000402257
ensembl transcript: ENST00000436581
gene symbol: RUNX1T1
hgvsc: ENST00000436581.2:c.121+19304G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428742
ensembl transcript: ENST00000520724
gene symbol: RUNX1T1
hgvsc: ENST00000520724.1:c.-24+19304G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000523290
gene symbol: RUNX1T1
hgvsc: ENST00000523290.1:n.235+18985G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428543
ensembl transcript: ENST00000523629
gene symbol: RUNX1T1
hgvsc: ENST00000523629.1:c.10G>A
hgvsp: ENSP00000428543.1:p.Val4Ile
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428100
ensembl transcript: ENST00000520556
gene symbol: RUNX1T1
hgvsc: ENST00000520556.1:c.-92+18985G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429857
ensembl transcript: ENST00000520428
gene symbol: RUNX1T1
hgvsc: ENST00000520428.1:c.10G>A
hgvsp: ENSP00000429857.1:p.Val4Ile
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000428475
ensembl transcript: ENST00000518823
gene symbol: RUNX1T1
hgvsc: ENST00000518823.1:c.-154G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000079102
ensembl transcript: ENST00000522065
gene symbol: RUNX1T1
hgvsc: ENST00000522065.1:n.298G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000429137
ensembl transcript: ENST00000521319
gene symbol: RUNX1T1
hgvsc: ENST00000521319.1:c.-255-13334G>A
variant of: http://identifiers.org/hgnc/1535

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000079102
ensembl protein: ENSP00000353504
ensembl transcript: ENST00000360348
gene symbol: RUNX1T1
hgvsc: ENST00000360348.2:c.-24+18985G>A
variant of: http://identifiers.org/hgnc/1535

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4035
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6078
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 906
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6436
bin: 4.75e1
variant carriers: 0