20-57478676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478676
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478676
    reference: chr 20
allele count: 21
allele frequency: 1.729647810760057e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.49+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.427+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.327+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.270+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.135+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*215+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.240+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.331+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.557+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.564+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.253+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*218+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2241+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.386+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.315+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.363+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.386+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.229+36C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.171+36C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-57478676-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478676
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478676
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.263+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.386+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.229+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.301+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.546+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.253+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.564+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.181+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.557+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.363+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.135+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.402+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.605+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2528+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2199+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.427+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.389+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.355+36C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.240+36C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

20-57478677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478677
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478677
    reference: chr 20
allele count: 9
allele frequency: 7.413142678286081e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.386+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.327+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.181+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.557+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.270+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.240+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.135+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.605+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.546+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.49+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2528+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.253+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.430+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.135+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.363+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.171+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*170+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.267+37G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.229+37G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

20-57478678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478678
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478678
    reference: chr 20
allele count: 6
allele frequency: 4.941850887885876e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.270+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*218+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.331+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.564+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.427+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.253+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.402+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.546+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.355+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.49+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.135+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.389+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.315+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.267+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.386+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.327+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.181+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.311+38C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2528+38C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

20-57478679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478679
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478679
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.386+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.55+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*215+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.327+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.240+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.270+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*218+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2241+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.229+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.135+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.427+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.263+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.386+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.270+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.253+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.564+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.605+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.557+39C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.355+39C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

20-57478681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478681
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478681
    reference: chr 20
allele count: 12
allele frequency: 9.899519873286146e-5
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*215+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.327+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*218+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.49+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.270+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.389+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.427+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.267+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.605+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.557+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.312+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.355+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.429+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.402+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.325+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.229+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.331+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1601+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.363+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.270+41T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.135+41T>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

20-57478687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478687
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478687
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*171-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*219-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.182-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2529-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1602-40C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.50-40C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

20-57478690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478690
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478690
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.312-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.302-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.241-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.172-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.565-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*171-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1602-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*219-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.547-37G>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2529-37G>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

20-57478694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478694
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478694
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.431-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*219-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.302-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.241-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.50-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.312-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-33T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-33T>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

20-57478695-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478695
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478695
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.565-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2242-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2200-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.172-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.271-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-32G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-32G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

20-57478696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478696
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478696
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.271-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.302-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.565-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.264-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.268-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.182-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.326-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.387-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-31T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-31T>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

20-57478697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478697
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478697
    reference: chr 20
allele count: 27
allele frequency: 2.223832899548644e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.387-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.431-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.268-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.172-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.565-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2200-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2529-30T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-30T>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-57478704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478704
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478704
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.268-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.182-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.56-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.387-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.547-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1602-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.264-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-23C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-23C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-57478705-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.431-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1602-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.241-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.56-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.547-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.50-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2200-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.606-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.271-22C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-22C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-57478705-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.431-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.271-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.136-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.182-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.316-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.312-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.56-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.268-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*219-22C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.326-22C>G
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

20-57478705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478705
    reference: chr 20
allele count: 8
allele frequency: 6.589243060703402e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.302-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.328-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.241-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.264-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.326-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2529-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2242-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.431-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.430-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.547-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*219-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.387-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-22C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-22C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

20-57478706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478706
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478706
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.356-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1602-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.364-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.182-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2200-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.271-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*216-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.313-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.547-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.428-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.332-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.390-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.241-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.254-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.387-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.387-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2242-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.230-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.403-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.136-21G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.558-21G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/20-57478728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478728
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478728
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.303C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.242C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.357C>A
  hgvsp: ENSP00000412424.1:p.Thr120Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2530C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.57C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.365C>A
  hgvsp: ENSP00000265621.4:p.Thr122Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.404C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.269C>A
  hgvsp: ENSP00000265620.7:p.Thr90Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1603C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.255C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.314C>A
  hgvsp: ENSP00000360126.3:p.Thr105Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.265C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.137C>A
  hgvsp: ENSP00000474802.1:p.Thr46Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2201C>A
  hgvsp: ENSP00000360143.4:p.Thr734Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.272C>A
  hgvsp: ENSP00000360136.3:p.Thr91Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*220C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.317C>A
  hgvsp: ENSP00000346328.7:p.Thr106Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.51C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr748Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-57478729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478729
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478729
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.392C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.243C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.256C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.232C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.334C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.430C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1604C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2531C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.567C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.608C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.366C>T
  hgvsp: ENST00000349036.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.433C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.389C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*218C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.174C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.58C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.330C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.270C>T
  hgvsp: ENST00000265620.7:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.389C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2244C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-57478738-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478738
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478738
    reference: chr 20
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2253C>G
  hgvsp: ENST00000371100.4:c.2253C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.367C>G
  hgvsp: ENST00000450130.1:c.367C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.252C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.558C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.401C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.147C>G
  hgvsp: ENST00000604005.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2540C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.375C>G
  hgvsp: ENST00000349036.3:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*227C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.313C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.147C>G
  hgvsp: ENST00000603546.1:c.147C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2211C>G
  hgvsp: ENST00000371102.4:c.2211C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.241C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.279C>G
  hgvsp: ENST00000265620.7:c.279C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.282C>G
  hgvsp: ENST00000306090.10:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*230C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.617C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.282C>G
  hgvsp: ENST00000371095.3:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.441C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.324C>G
  hgvsp: ENST00000371085.3:c.324C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala751Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

20-57478738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478738
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478738
    reference: chr 20
allele count: 15
allele frequency: 1.235462721971469e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.337C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.265C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.279C>T
  hgvsp: ENST00000265620.7:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.241C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.183C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.367C>T
  hgvsp: ENST00000450130.1:c.367C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.375C>T
  hgvsp: ENST00000349036.3:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.569C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.313C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*227C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.147C>T
  hgvsp: ENST00000604005.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.282C>T
  hgvsp: ENST00000371095.3:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.327C>T
  hgvsp: ENST00000354359.7:c.327C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.401C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.442C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.282C>T
  hgvsp: ENST00000306090.10:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2253C>T
  hgvsp: ENST00000371100.4:c.2253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2211C>T
  hgvsp: ENST00000371102.4:c.2211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.147C>T
  hgvsp: ENST00000603546.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*230C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala751Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

20-57478756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478756
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478756
    reference: chr 20
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.300G>A
  hgvsp: ENST00000306090.10:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.460G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.355G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.393G>A
  hgvsp: ENST00000349036.3:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1631G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.357G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*245G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.283G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.416G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2271G>A
  hgvsp: ENST00000371100.4:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.341G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.342G>A
  hgvsp: ENST00000371085.3:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.385G>A
  hgvsp: ENST00000450130.1:c.385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.587G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.201G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.165G>A
  hgvsp: ENST00000604005.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2558G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.165G>A
  hgvsp: ENST00000603546.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.297G>A
  hgvsp: ENST00000265620.7:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val757Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

20-57478759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478759
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478759
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.345C>T
  hgvsp: ENST00000371085.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1634C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.360C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.214C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2561C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.435C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.462C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.388C>T
  hgvsp: ENST00000450130.1:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.204C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.286C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.262C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.590C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.344C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.303C>T
  hgvsp: ENST00000306090.10:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.463C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.419C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.168C>T
  hgvsp: ENST00000603546.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*248C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.88C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.82C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.168C>T
  hgvsp: ENST00000604005.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro758Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

20-57478760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478760
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478760
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.346C>G
  hgvsp: ENSP00000360126.3:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.361C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.389C>G
  hgvsp: ENSP00000412424.1:p.Pro131Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*204C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.89C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.263C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.297C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2233C>G
  hgvsp: ENSP00000360143.4:p.Pro745Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.420C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.591C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2275C>G
  hgvsp: ENSP00000360141.3:p.Pro759Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.639C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.463C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.169C>G
  hgvsp: ENSP00000474219.1:p.Pro57Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.420C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.365C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.304C>G
  hgvsp: ENSP00000304472.10:p.Pro102Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.349C>G
  hgvsp: ENSP00000346328.7:p.Pro117Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.301C>G
  hgvsp: ENSP00000265620.7:p.Pro101Ala
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.423C>G
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro759Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-57478762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478762
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478762
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*251C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.361C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.465C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.347C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.299C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.303C>T
  hgvsp: ENST00000265620.7:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.593C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1637C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.438C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.289C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.367C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.306C>T
  hgvsp: ENST00000306090.10:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.582C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.399C>T
  hgvsp: ENST00000349036.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.600C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.171C>T
  hgvsp: ENST00000603546.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*206C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.171C>T
  hgvsp: ENST00000604005.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.391C>T
  hgvsp: ENST00000450130.1:c.391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.348C>T
  hgvsp: ENST00000371085.3:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro759Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-57478771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478771
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478771
    reference: chr 20
allele count: 9
allele frequency: 7.412776331828814e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.376G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2244G>A
  hgvsp: ENST00000371102.4:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.357G>A
  hgvsp: ENST00000371085.3:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.285G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.591G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.609G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.400G>A
  hgvsp: ENST00000450130.1:c.400G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.180G>A
  hgvsp: ENST00000603546.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*263G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.650G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.312G>A
  hgvsp: ENST00000265620.7:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.346G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.180G>A
  hgvsp: ENST00000604005.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.447G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*260G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1646G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.434G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.315G>A
  hgvsp: ENST00000306090.10:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.431G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu762Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-57478774-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478774
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478774
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.183C>A
  hgvsp: ENST00000604005.1:c.183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.477C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.315C>A
  hgvsp: ENST00000265620.7:c.315C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.183C>A
  hgvsp: ENST00000603546.1:c.183C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*263C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.403C>A
  hgvsp: ENST00000450130.1:c.403C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.450C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.360C>A
  hgvsp: ENST00000371085.3:c.360C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.318C>A
  hgvsp: ENST00000306090.10:c.318C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*218C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.437C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.363C>A
  hgvsp: ENST00000354359.7:c.363C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.411C>A
  hgvsp: ENST00000349036.3:c.411C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.301C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.349C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.434C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1649C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.612C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2289C>A
  hgvsp: ENST00000371100.4:c.2289C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.277C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala763Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-57478780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478780
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478780
    reference: chr 20
allele count: 222
allele frequency: 1.828484828517774e-3
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*269C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.321C>T
  hgvsp: ENST00000265620.7:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.659C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.417C>T
  hgvsp: ENST00000349036.3:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.443C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.189C>T
  hgvsp: ENST00000603546.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.355C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.481C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*272C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.365C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.294C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.317C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.366C>T
  hgvsp: ENST00000371085.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*224C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2295C>T
  hgvsp: ENST00000371100.4:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.189C>T
  hgvsp: ENST00000604005.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.611C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.324C>T
  hgvsp: ENST00000371095.3:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.409C>T
  hgvsp: ENST00000450130.1:c.409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.235C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro765Pro
num of homozygotes: 5
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

20-57478781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478781
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.370G>A
  hgvsp: ENSP00000346328.7:p.Glu124Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.295G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.410G>A
  hgvsp: ENSP00000412424.1:p.Glu138Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.660G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.484G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.284G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.226G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.418G>A
  hgvsp: ENSP00000265621.4:p.Glu140Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2254G>A
  hgvsp: ENSP00000360143.4:p.Glu752Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.322G>A
  hgvsp: ENSP00000265620.7:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.308G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.190G>A
  hgvsp: ENSP00000474219.1:p.Glu64Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2296G>A
  hgvsp: ENSP00000360141.3:p.Glu766Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*270G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.485G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.367G>A
  hgvsp: ENSP00000360126.3:p.Glu123Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.325G>A
  hgvsp: ENSP00000304472.10:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1656G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.444G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu766Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

20-57478798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478798
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478798
    reference: chr 20
allele count: 230
allele frequency: 1.894376173689586e-3
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.384G>A
  hgvsp: ENST00000371085.3:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.458G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.474G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.397G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.127G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.325G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*242G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2313G>A
  hgvsp: ENST00000371100.4:c.2313G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.435G>A
  hgvsp: ENST00000349036.3:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.342G>A
  hgvsp: ENST00000306090.10:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.677G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*287G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.499G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.461G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.207G>A
  hgvsp: ENST00000603546.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.207G>A
  hgvsp: ENST00000604005.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.3G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.458G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.383G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.342G>A
  hgvsp: ENST00000371095.3:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val771Val
num of homozygotes: 5
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

20-57478807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478807
    reference: chr 20
allele count: 66435
allele frequency: 5.473306969846762e-1
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.351C>T
  hgvsp: ENST00000306090.10:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.444C>T
  hgvsp: ENST00000349036.3:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.638C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.393C>T
  hgvsp: ENST00000371085.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.436C>T
  hgvsp: ENST00000450130.1:c.436C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2280C>T
  hgvsp: ENST00000371102.4:c.2280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.344C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.686C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2322C>T
  hgvsp: ENST00000371100.4:c.2322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.470C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.216C>T
  hgvsp: ENST00000604005.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2609C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.483C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.348C>T
  hgvsp: ENST00000265620.7:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.645C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.334C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.510C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*299C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.351C>T
  hgvsp: ENST00000371095.3:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.252C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile774Ile
num of homozygotes: 18875
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

20-57478810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478810
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478810
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2283G>A
  hgvsp: ENST00000371102.4:c.2283G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.219G>A
  hgvsp: ENST00000603546.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.255G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.630G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.219G>A
  hgvsp: ENST00000604005.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.139G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*299G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.513G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.351G>A
  hgvsp: ENST00000265620.7:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1685G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.354G>A
  hgvsp: ENST00000371095.3:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.313G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2325G>A
  hgvsp: ENST00000371100.4:c.2325G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.470G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.347G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.396G>A
  hgvsp: ENST00000371085.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.354G>A
  hgvsp: ENST00000306090.10:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.265G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu775Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

20-57478812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478812
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478812
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1687G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2285G>A
  hgvsp: ENSP00000360143.4:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.17G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.397G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2327G>A
  hgvsp: ENSP00000360141.3:p.Ser776Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.691G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.267G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.221G>A
  hgvsp: ENSP00000474219.1:p.Ser74Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.449G>A
  hgvsp: ENSP00000265621.4:p.Ser150Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.475G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.315G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.356G>A
  hgvsp: ENSP00000304472.10:p.Ser119Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.257G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.339G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.441G>A
  hgvsp: ENSP00000412424.1:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.513G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.349G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.515G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.353G>A
  hgvsp: ENSP00000265620.7:p.Ser118Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.472G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser776Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

20-57478822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478822
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478822
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.277C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2295C>T
  hgvsp: ENST00000371102.4:c.2295C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.421C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.451C>T
  hgvsp: ENST00000450130.1:c.451C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.459C>T
  hgvsp: ENST00000349036.3:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.145C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.397C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.408C>T
  hgvsp: ENST00000371085.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.482C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.151C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.267C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.363C>T
  hgvsp: ENST00000265620.7:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.653C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.523C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.231C>T
  hgvsp: ENST00000603546.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2337C>T
  hgvsp: ENST00000371100.4:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.423C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.231C>T
  hgvsp: ENST00000604005.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.366C>T
  hgvsp: ENST00000371095.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.325C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn779Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

20-57478823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478823
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478823
    reference: chr 20
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.422G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*267G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2338G>A
  hgvsp: ENSP00000360141.3:p.Val780Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.499G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.460G>A
  hgvsp: ENSP00000265621.4:p.Val154Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.232G>A
  hgvsp: ENSP00000474219.1:p.Val78Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.28G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.483G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1698G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*312G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.337G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.483G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.232G>A
  hgvsp: ENSP00000474802.1:p.Val78Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.146G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.367G>A
  hgvsp: ENSP00000304472.10:p.Val123Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.452G>A
  hgvsp: ENSP00000412424.1:p.Val152Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.527G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.412G>A
  hgvsp: ENSP00000346328.7:p.Val138Met
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.408G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.360G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val780Met
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-57478829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478829
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478829
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1704G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000462499
  gene symbol: GNAS
  hgvsc: ENST00000462499.1:n.492G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.489G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2302G>A
  hgvsp: ENSP00000360143.4:p.Asp768Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.489G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.505G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.373G>A
  hgvsp: ENSP00000304472.10:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.458G>A
  hgvsp: ENSP00000412424.1:p.Asp154Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.708G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.667G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.238G>A
  hgvsp: ENSP00000474802.1:p.Asp80Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.428G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.532G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.238G>A
  hgvsp: ENSP00000474219.1:p.Asp80Asn
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.404G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.152G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.284G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.366G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.414G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.370G>A
  hgvsp: ENSP00000265620.7:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp782Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-57478845-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478845
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478845
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.450C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.482C>G
  hgvsp: ENSP00000265621.4:p.Pro161Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.372C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.431C>G
  hgvsp: ENSP00000360126.3:p.Pro144Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2360C>G
  hgvsp: ENSP00000360141.3:p.Pro787Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.174C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.665C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.474C>G
  hgvsp: ENSP00000412424.1:p.Pro159Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.389C>G
  hgvsp: ENSP00000360136.3:p.Pro130Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.168C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.254C>G
  hgvsp: ENSP00000474219.1:p.Pro85Arg
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.505C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.549C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*337C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*289C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.382C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.444C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.386C>G
  hgvsp: ENSP00000265620.7:p.Pro129Arg
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro787Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

20-57478846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478846
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478846
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.475C>G
  hgvsp: ENST00000450130.1:c.475C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432C>G
  hgvsp: ENST00000371085.3:c.432C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.383C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.666C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.301C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.445C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335C>G
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483C>G
  hgvsp: ENST00000349036.3:c.483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2361C>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

20-57478846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478846
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478846
    reference: chr 20
allele count: 326
allele frequency: 2.685072315751326e-3
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255C>T
  hgvsp: ENST00000603546.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255C>T
  hgvsp: ENST00000604005.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390C>T
  hgvsp: ENST00000306090.10:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.51C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.301C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.445C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432C>T
  hgvsp: ENST00000371085.3:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483C>T
  hgvsp: ENST00000349036.3:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2319C>T
  hgvsp: ENST00000371102.4:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.431C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2361C>T
num of homozygotes: 3
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-57478856-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478856
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478856
    reference: chr 20
allele count: 30
allele frequency: 2.470925443942938e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.169+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.387+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2361+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.506+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*290+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.666+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+10A>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+10A>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-57478857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478857
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478857
    reference: chr 20
allele count: 13
allele frequency: 1.07073435904194e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.666+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.522+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.435+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.387+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2319+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2361+11C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.175+11C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

20-57478857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478857
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478857
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.383+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.387+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.550+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360141
  ensembl transcript: ENST00000371100
  gene symbol: GNAS
  hgvsc: ENST00000371100.4:c.2361+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.51+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1721+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+11C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.169+11C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

20-57478860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478860
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478860
    reference: chr 20
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.666+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.421+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2319+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.475+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.301+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.550+14C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+14C>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

20-57478861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478861
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478861
    reference: chr 20
allele count: 44
allele frequency: 3.624023984449643e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.383+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.522+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000478585
  gene symbol: GNAS
  hgvsc: ENST00000478585.1:n.445+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.506+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487862
  gene symbol: GNAS
  hgvsc: ENST00000487862.1:n.666+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.291+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.550+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.301+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+15G>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+15G>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/20-57478863-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478863
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478863
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.383+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000490374
  gene symbol: GNAS
  hgvsc: ENST00000490374.1:n.550+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000346328
  ensembl transcript: ENST00000354359
  gene symbol: GNAS
  hgvsc: ENST00000354359.7:c.435+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464624
  gene symbol: GNAS
  hgvsc: ENST00000464624.2:n.2648+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.291+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.431+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+17C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+17C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

20-57478863-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478863
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478863
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.51+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.421+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.475+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*290+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.175+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.522+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+17C>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+17C>T
  variant of: http://identifiers.org/hgnc/4392
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: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

20-57478866-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478866
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478866
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.387+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.169+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000468895
  gene symbol: GNAS
  hgvsc: ENST00000468895.1:n.301+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360136
  ensembl transcript: ENST00000371095
  gene symbol: GNAS
  hgvsc: ENST00000371095.3:c.390+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.51+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480975
  gene symbol: GNAS
  hgvsc: ENST00000480975.1:n.431+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1721+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360143
  ensembl transcript: ENST00000371102
  gene symbol: GNAS
  hgvsc: ENST00000371102.4:c.2319+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000492907
  gene symbol: GNAS
  hgvsc: ENST00000492907.1:n.383+20G>T
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+20G>T
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-57478875-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478875
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478875
    reference: chr 20
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000493958
  gene symbol: GNAS
  hgvsc: ENST00000493958.1:n.51+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000482112
  gene symbol: GNAS
  hgvsc: ENST00000482112.1:n.506+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000470512
  gene symbol: GNAS
  hgvsc: ENST00000470512.1:n.506+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488546
  gene symbol: GNAS
  hgvsc: ENST00000488546.1:n.291+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000304472
  ensembl transcript: ENST00000306090
  gene symbol: GNAS
  hgvsc: ENST00000306090.10:c.390+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000485673
  gene symbol: GNAS
  hgvsc: ENST00000485673.1:n.677+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000487981
  gene symbol: GNAS
  hgvsc: ENST00000487981.1:n.169+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.475+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+29T>C
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467321
  gene symbol: GNAS
  hgvsc: ENST00000467321.1:n.447+29T>C
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/20-57478879-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57478879
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57478879
    reference: chr 20
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000472183
  gene symbol: GNAS
  hgvsc: ENST00000472183.1:n.684+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000481039
  gene symbol: GNAS
  hgvsc: ENST00000481039.1:n.349+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000496934
  gene symbol: GNAS
  hgvsc: ENST00000496934.1:n.1721+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000488652
  gene symbol: GNAS
  hgvsc: ENST00000488652.1:n.522+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474802
  ensembl transcript: ENST00000603546
  gene symbol: GNAS
  hgvsc: ENST00000603546.1:c.255+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000480232
  gene symbol: GNAS
  hgvsc: ENST00000480232.1:n.451+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000323571
  ensembl transcript: ENST00000313949
  gene symbol: GNAS
  hgvsc: ENST00000313949.7:c.*335+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000469431
  gene symbol: GNAS
  hgvsc: ENST00000469431.1:n.549+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360126
  ensembl transcript: ENST00000371085
  gene symbol: GNAS
  hgvsc: ENST00000371085.3:c.432+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476935
  gene symbol: GNAS
  hgvsc: ENST00000476935.1:n.421+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000464788
  gene symbol: GNAS
  hgvsc: ENST00000464788.1:n.360+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000467227
  gene symbol: GNAS
  hgvsc: ENST00000467227.1:n.373+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000412424
  ensembl transcript: ENST00000450130
  gene symbol: GNAS
  hgvsc: ENST00000450130.1:c.475+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265620
  ensembl transcript: ENST00000265620
  gene symbol: GNAS
  hgvsc: ENST00000265620.7:c.387+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000416234
  ensembl transcript: ENST00000419558
  gene symbol: GNAS
  hgvsc: ENST00000419558.1:c.*290+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000477931
  gene symbol: GNAS
  hgvsc: ENST00000477931.1:n.547+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000474219
  ensembl transcript: ENST00000604005
  gene symbol: GNAS
  hgvsc: ENST00000604005.1:c.255+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000265621
  ensembl transcript: ENST00000349036
  gene symbol: GNAS
  hgvsc: ENST00000349036.3:c.483+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl protein: ENSP00000360115
  ensembl transcript: ENST00000371075
  gene symbol: GNAS
  hgvsc: ENST00000371075.3:c.*338+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000494081
  gene symbol: GNAS
  hgvsc: ENST00000494081.1:n.175+33C>A
  variant of: http://identifiers.org/hgnc/4392
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087460
  ensembl transcript: ENST00000476196
  gene symbol: GNAS
  hgvsc: ENST00000476196.1:n.725+33C>A
  variant of: http://identifiers.org/hgnc/4392
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.430+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.135+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.355+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.267+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2528+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1601+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.270+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.546+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.402+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2199+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.263+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.301+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.605+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.311+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*170+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.325+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.55+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.389+36C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.181+36C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 682
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 624
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1679
bin: 9.75e1
variant carriers: 14

GenotypeDepth
all individuals: 9022
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 637
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 644
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 37947
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 683
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 4.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1082
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 547
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 2149
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6435
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3042
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8843
bin: 9.75e1
variant carriers: 21

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.39736290080911e-4
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.872148e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.311+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.386+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.331+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*215+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2241+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.270+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.327+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.430+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.135+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.325+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1601+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.267+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.270+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*170+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.315+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.49+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*218+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.55+36C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.171+36C>A
variant of: http://identifiers.org/hgnc/4392

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

GenotypeDepth
all individuals: 637
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4372
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9022
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37947
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 682
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1679
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 683
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1082
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 547
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35665
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3042
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.872148e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.263e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.427+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.315+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.564+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.331+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2199+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*218+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.389+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.55+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.355+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.402+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.311+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1601+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.263+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.301+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.386+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2241+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*215+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.325+37G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.270+37G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 4371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37940
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 555
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9019
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 636
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 643
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 471
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1082
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3044
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8851
bin: 9.75e1
variant carriers: 9

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

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

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

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

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

GenotypeQuality
all individuals: 35656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6432
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2149
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1121
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.872906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.0029e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.135+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.430+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.229+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.557+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.386+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.240+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.171+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.325+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.301+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.263+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.363+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.605+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2199+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1601+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.270+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2241+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.55+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*170+38C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*215+38C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 472
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 680
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37936
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1084
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 636
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9018
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 6

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

GenotypeDepth
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35654
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6433
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1121
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 2149
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8857
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3043
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.483e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

DP
type: SiteQuality
SIO_000300: 1.873695e6

QD
type: SiteQuality
SIO_000300: 1.33e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.363+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.389+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.430+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.315+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.171+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.325+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2528+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2199+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*170+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.267+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.301+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.402+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.49+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.311+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.546+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.135+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.181+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1601+39C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.331+39C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1084
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4371
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 472
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 549
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37936
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 639
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 680
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 636
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9018
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1691
bin: 9.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6432
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35655
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8858
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 966
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.124e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

DP
type: SiteQuality
SIO_000300: 1.873596e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.253+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.564+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2241+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.55+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.240+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.315+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*170+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.311+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.263+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.135+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.386+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.546+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.430+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2199+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.171+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.386+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2528+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.301+41T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.181+41T>C
variant of: http://identifiers.org/hgnc/4392

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

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

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1773
bin: 9.75e1
variant carriers: 11

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

GenotypeDepth
all individuals: 1068
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8961
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37854
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 706
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 567
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 630
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35578
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8823
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500645277469312e-4
allele num: 66638
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-4
allele num: 6568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.886012e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.669e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 1.47021e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.001e2

MQ
type: SiteQuality
SIO_000300: 5.872e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.230-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.136-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.430-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.387-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-40C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-40C>T
variant of: http://identifiers.org/hgnc/4392

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

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 642
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8962
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37851
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1774
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 9047
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

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

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: 66740
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.009e0

FS
type: SiteQuality
SIO_000300: 7.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.294e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.886443e6

VQSLOD
type: SiteQuality
SIO_000300: -1.277e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.428-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.558-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.390-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*216-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.136-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.356-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.332-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.316-37G>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-37G>C
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37850
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8961
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1775
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6397
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9049
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

FS
type: SiteQuality
SIO_000300: 4.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

DP
type: SiteQuality
SIO_000300: 1.886676e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

QD
type: SiteQuality
SIO_000300: 1.334e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.230-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.271-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.316-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.403-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-33T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-33T>C
variant of: http://identifiers.org/hgnc/4392

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

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

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1776
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8960
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37849
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35570
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9050
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 6397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 10406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 1.886788e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.648e0

VQSLOD
type: SiteQuality
SIO_000300: -1.615e-1

QD
type: SiteQuality
SIO_000300: 1.483e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.421e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.136-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.356-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.136-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-32G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-32G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37848
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 8960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1777
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9051
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.085e1

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.929e0

DP
type: SiteQuality
SIO_000300: 1.886944e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.254-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.390-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.136-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.316-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.430-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.364-31T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-31T>C
variant of: http://identifiers.org/hgnc/4392

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

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 654
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37848
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 642
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8960
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1778
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9051
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 954
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35571
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.887108e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.457e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.136-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.254-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.558-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.606-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.313-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-30T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-30T>C
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 1

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

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

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

GenotypeDepth
all individuals: 1798
bin: 9.75e1
variant carriers: 21

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4331
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 37836
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 7.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 644
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1072
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 566
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6395
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9069
bin: 9.75e1
variant carriers: 27

African
type: Population
allele count: 27
allele frequency: 2.594656928694984e-3
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.890082e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.398e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.59e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.387-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.230-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.403-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.606-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*216-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-23C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-23C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 4331
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37833
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 566
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6395
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35556
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9071
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.922e0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.889946e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.254-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.136-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.356-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.430-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.271-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-22C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*216-22C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4328
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1810
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37826
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 9080
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.891689e6

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.403-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.547-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.241-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.328-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.230-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.387-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.271-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.356-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2242-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.606-22C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-22C>G
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4328
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37826
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1810
bin: 9.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9080
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.345e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.891689e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.182-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2200-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.271-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*216-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.356-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.606-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.136-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.403-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1602-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.428-22C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.316-22C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 4328
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1810
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37826
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35550
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9080
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 1.891689e6

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.56-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.264-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.302-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.268-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.328-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.606-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.312-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*171-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.431-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.430-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.136-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.326-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.50-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.316-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.271-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2529-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.172-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*219-21G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.565-21G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1072
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1808
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37826
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9083
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6393
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35549
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3022
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 10406
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.891432e6

VQSLOD
type: SiteQuality
SIO_000300: -1.321e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

FS
type: SiteQuality
SIO_000300: 9.523e0

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.208e1

Annotation
canonical: true
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2243C>A
hgvsp: ENSP00000360141.3:p.Thr748Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.137C>A
hgvsp: ENSP00000474219.1:p.Thr46Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*217C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.173C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.388C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*172C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.566C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.559C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.329C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.391C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.607C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.327C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.272C>A
hgvsp: ENSP00000304472.10:p.Thr91Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.231C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.429C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.313C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.431C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.548C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.388C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.183C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.432C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.333C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37825
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1809
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6392
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35548
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3024
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9083
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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: 10406
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: -2.199e0

FS
type: SiteQuality
SIO_000300: 1.2994e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.891568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.358C>T
hgvsp: ENST00000450130.1:c.358C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.138C>T
hgvsp: ENST00000603546.1:c.138C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.432C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.266C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.138C>T
hgvsp: ENST00000604005.1:c.138C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2202C>T
hgvsp: ENST00000371102.4:c.2202C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.315C>T
hgvsp: ENST00000371085.3:c.315C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.318C>T
hgvsp: ENST00000354359.7:c.318C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.549C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.273C>T
hgvsp: ENST00000306090.10:c.273C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2244C>T
hgvsp: ENST00000371100.4:c.2244C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.184C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.328C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.560C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.273C>T
hgvsp: ENST00000371095.3:c.273C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.314C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*221C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.52C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*173C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.405C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.304C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37824
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 562
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8956
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1810
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9084
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6391
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35548
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.353e0

VQSLOD
type: SiteQuality
SIO_000300: -2.524e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.218e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.627e1

FS
type: SiteQuality
SIO_000300: 1.725e0

DP
type: SiteQuality
SIO_000300: 1.891608e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.265C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.569C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.183C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.339C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.193C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.439C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.442C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.337C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.323C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.275C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.414C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.327C>G
hgvsp: ENST00000354359.7:c.327C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1613C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*182C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.61C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.67C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.576C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.398C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.343C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.398C>G
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8954
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1828
bin: 9.75e1
variant carriers: 3

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

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 9100
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6391
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 1.894166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*182C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.398C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.617C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.398C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.441C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.414C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.61C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.193C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2540C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.252C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.558C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.275C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.343C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.324C>T
hgvsp: ENST00000371085.3:c.324C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1613C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.67C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.339C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.576C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.439C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.323C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8954
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1828
bin: 9.75e1
variant carriers: 15

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

GenotypeQuality
all individuals: 0
bin: 2.25e1
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: 0
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6391
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 9100
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 1107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 15
allele frequency: 1.733302519066328e-3
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 1.894166e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.576G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.594G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.259G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2229G>A
hgvsp: ENST00000371102.4:c.2229G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.635G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.457G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.211G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.300G>A
hgvsp: ENST00000371095.3:c.300G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.432G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.345G>A
hgvsp: ENST00000354359.7:c.345G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.293G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.79G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.419G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.331G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.85G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.416G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.459G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.270G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.361G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*248G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37805
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8952
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1832
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 574
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35526
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9101
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 6391
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.894613e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2232C>T
hgvsp: ENST00000371102.4:c.2232C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.300C>T
hgvsp: ENST00000265620.7:c.300C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.396C>T
hgvsp: ENST00000349036.3:c.396C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2274C>T
hgvsp: ENST00000371100.4:c.2274C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.364C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*251C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.334C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.296C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.579C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.348C>T
hgvsp: ENST00000354359.7:c.348C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.358C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.597C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.273C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.638C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.460C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*203C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.303C>T
hgvsp: ENST00000371095.3:c.303C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.419C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.422C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8952
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1832
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37804
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9106
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35526
bin: 6.25e1
variant carriers: 0

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

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

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: 10406
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.894676e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.464C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.580C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.359C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.215C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.397C>G
hgvsp: ENSP00000265621.4:p.Pro133Ala
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.335C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*252C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1635C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.598C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.436C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.169C>G
hgvsp: ENSP00000474802.1:p.Pro57Ala
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*249C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.83C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.304C>G
hgvsp: ENSP00000360136.3:p.Pro102Ala
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.287C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.205C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.345C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.461C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2562C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.274C>G
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8952
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 559
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1833
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37803
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35525
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9107
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 1.2078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.156e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.942e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

DP
type: SiteQuality
SIO_000300: 1.894826e6

QD
type: SiteQuality
SIO_000300: 1.042e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.351C>T
hgvsp: ENST00000354359.7:c.351C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.466C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.217C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2277C>T
hgvsp: ENST00000371100.4:c.2277C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2235C>T
hgvsp: ENST00000371102.4:c.2235C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.425C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.265C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.85C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2564C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.207C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.463C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.363C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*254C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.641C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.422C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.337C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.276C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.422C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.91C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.306C>T
hgvsp: ENST00000371095.3:c.306C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 8951
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37802
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1834
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 9109
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35524
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6389
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 2.437e0

DP
type: SiteQuality
SIO_000300: 1.894993e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2286G>A
hgvsp: ENST00000371100.4:c.2286G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.315G>A
hgvsp: ENST00000371095.3:c.315G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.602G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.408G>A
hgvsp: ENST00000349036.3:c.408G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.475G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.360G>A
hgvsp: ENST00000354359.7:c.360G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.94G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.216G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.100G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.431G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.298G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.472G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.370G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.474G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.274G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2573G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.372G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.226G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.356G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.308G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37798
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8949
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 643
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4327
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1842
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 695
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 2463
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3023
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9115
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2136
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.533e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

DP
type: SiteQuality
SIO_000300: 1.896127e6

QD
type: SiteQuality
SIO_000300: 1.407e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.311C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.605C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.375C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.434C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.379C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2576C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.288C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.653C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*266C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.478C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.103C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.475C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.373C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.594C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.359C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.97C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2247C>A
hgvsp: ENST00000371102.4:c.2247C>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.318C>A
hgvsp: ENST00000371095.3:c.318C>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.219C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.229C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 559
bin: 5.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1075
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8949
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 561
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 695
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1841
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4326
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37798
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35520
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 2462
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3024
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 2.147e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 1.896013e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.483C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.283C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2253C>T
hgvsp: ENST00000371102.4:c.2253C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.324C>T
hgvsp: ENST00000306090.10:c.324C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.369C>T
hgvsp: ENST00000354359.7:c.369C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.618C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.109C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.456C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.307C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.103C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.381C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.225C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.385C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1655C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.600C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.440C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2582C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.440C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.484C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.379C>T
variant of: http://identifiers.org/hgnc/4392

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

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

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8913
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2049
bin: 9.75e1
variant carriers: 212

GenotypeDepth
all individuals: 652
bin: 7.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 37674
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4315
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1060
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 656
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.25e1
variant carriers: 2

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

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

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

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3015
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9291
bin: 9.75e1
variant carriers: 217

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

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

GenotypeQuality
all individuals: 35402
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 950
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6364
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 209
allele frequency: 2.00845665961945e-2
allele num: 10406
num of homozygotes: 5

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.765e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 1.927546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.457G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.190G>A
hgvsp: ENSP00000474802.1:p.Glu64Lys
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.441G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*273G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.325G>A
hgvsp: ENSP00000360136.3:p.Glu109Lys
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.366G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.441G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.619G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.110G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.601G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.612G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.380G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.386G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.104G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.356G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.236G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.482G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.318G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.382G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2583G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8913
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 37673
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 651
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4315
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 558
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 653
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 556
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1060
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2049
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 646
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9292
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6364
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 950
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3015
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.328e0

DP
type: SiteQuality
SIO_000300: 1.927065e6

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.053e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.502G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1673G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.387G>A
hgvsp: ENST00000354359.7:c.387G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.427G>A
hgvsp: ENST00000450130.1:c.427G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.253G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.243G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.312G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.629G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.399G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*290G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.618G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.121G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2271G>A
hgvsp: ENST00000371102.4:c.2271G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.339G>A
hgvsp: ENST00000265620.7:c.339G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.335G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.636G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.373G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2600G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.501G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.403G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.301G>A
variant of: http://identifiers.org/hgnc/4392

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

GenotypeDepth
all individuals: 651
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 646
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 558
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37667
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 651
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4313
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8912
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 656
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 668
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2060
bin: 9.75e1
variant carriers: 219

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

GenotypeQuality
all individuals: 3014
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9301
bin: 9.75e1
variant carriers: 225

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

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

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

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

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

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

GenotypeQuality
all individuals: 35397
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 948
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6362
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 217
allele frequency: 2.085335383432635e-2
allele num: 10406
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 1.931921e6

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.341e0

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.216C>T
hgvsp: ENST00000603546.1:c.216C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.508C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.136C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.396C>T
hgvsp: ENST00000354359.7:c.396C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.382C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.467C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*251C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.310C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.262C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.406C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.467C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.627C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*296C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.321C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.511C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.12C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.392C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.412C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.408C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1682C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.130C>T
variant of: http://identifiers.org/hgnc/4392

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

GenotypeDepth
all individuals: 135
bin: 4.75e1
variant carriers: 8

GenotypeDepth
all individuals: 150
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 72

GenotypeDepth
all individuals: 158
bin: 6.25e1
variant carriers: 26

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

GenotypeDepth
all individuals: 272
bin: 9.25e1
variant carriers: 173

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 53

GenotypeDepth
all individuals: 145
bin: 5.25e1
variant carriers: 14

GenotypeDepth
all individuals: 227
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8193
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 972
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 182
bin: 5.75e1
variant carriers: 31

GenotypeDepth
all individuals: 229
bin: 8.25e1
variant carriers: 98

GenotypeDepth
all individuals: 47096
bin: 9.75e1
variant carriers: 46834

GenotypeDepth
all individuals: 229
bin: 7.75e1
variant carriers: 102

GenotypeDepth
all individuals: 2074
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 8.75e1
variant carriers: 146

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7739
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49342
bin: 9.75e1
variant carriers: 47558

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

GenotypeQuality
all individuals: 483
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 550
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 7914
allele frequency: 7.605227753219297e-1
allele num: 10406
num of homozygotes: 2997

East Asian
type: Population
allele count: 5437
allele frequency: 6.301576263328698e-1
allele num: 8628
num of homozygotes: 1705

Other
type: Population
allele count: 506
allele frequency: 5.572687224669604e-1
allele num: 908
num of homozygotes: 149

European (Non-Finnish)
type: Population
allele count: 33427
allele frequency: 5.008690700949984e-1
allele num: 66738
num of homozygotes: 8501

Latino
type: Population
allele count: 7333
allele frequency: 6.335752548816312e-1
allele num: 11574
num of homozygotes: 2341

European (Finnish)
type: Population
allele count: 2409
allele frequency: 3.642273964318113e-1
allele num: 6614
num of homozygotes: 452

South Asian
type: Population
allele count: 9409
allele frequency: 5.69828003875969e-1
allele num: 16512
num of homozygotes: 2730

DP
type: SiteQuality
SIO_000300: 1.0848464e7

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

QD
type: SiteQuality
SIO_000300: 2.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.422e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.689G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2612G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.447G>A
hgvsp: ENST00000349036.3:c.447G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.439G>A
hgvsp: ENST00000450130.1:c.439G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.473G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.399G>A
hgvsp: ENST00000354359.7:c.399G>A(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*302G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.486G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.395G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.411G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.470G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.514G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.415G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.511G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.337G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.133G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.648G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.641G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.324G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.385G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.409G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1193
bin: 8.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48914
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 7847
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

QD
type: SiteQuality
SIO_000300: 2.859e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

DP
type: SiteQuality
SIO_000300: 7.067202e6

VQSLOD
type: SiteQuality
SIO_000300: -2.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*256G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*304G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.356G>A
hgvsp: ENSP00000360136.3:p.Ser119Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.516G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.387G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.326G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.411G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.141G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.401G>A
hgvsp: ENSP00000346328.7:p.Ser134Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.417G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.398G>A
hgvsp: ENSP00000360126.3:p.Ser133Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.488G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.413G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*301G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2614G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.643G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.472G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.221G>A
hgvsp: ENSP00000474802.1:p.Ser74Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.135G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.632G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.650G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8207
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39208
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48914
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7847
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.2142e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.889e0

QD
type: SiteQuality
SIO_000300: 1.518e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

DP
type: SiteQuality
SIO_000300: 7.067046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.183e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.701C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.411C>T
hgvsp: ENST00000354359.7:c.411C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.27C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.366C>T
hgvsp: ENST00000306090.10:c.366C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.359C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.526C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.427C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.525C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.349C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.485C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.336C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.482C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*266C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.498C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.660C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.642C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*311C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2624C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.407C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1697C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*314C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8206
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 39209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48915
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 7.067169e6

FS
type: SiteQuality
SIO_000300: 8.904999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.061e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.199e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.152G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*315G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.364G>A
hgvsp: ENSP00000265620.7:p.Val122Met
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.702G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.409G>A
hgvsp: ENSP00000360126.3:p.Val137Met
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.661G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.654G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.398G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.350G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.524G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.643G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000462499
gene symbol: GNAS
hgvsc: ENST00000462499.1:n.486G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.424G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.428G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.367G>A
hgvsp: ENSP00000360136.3:p.Val123Met
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.278G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.526G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.268G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.326G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2296G>A
hgvsp: ENSP00000360143.4:p.Val766Met
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2625G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8205
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1194
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39210
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 7845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
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: 265
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48916
bin: 9.75e1
variant carriers: 4

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 7.067334e6

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*321G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.418G>A
hgvsp: ENSP00000346328.7:p.Asp140Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.466G>A
hgvsp: ENSP00000265621.4:p.Asp156Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2344G>A
hgvsp: ENSP00000360141.3:p.Asp782Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.343G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.356G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.430G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.415G>A
hgvsp: ENSP00000360126.3:p.Asp139Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.34G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.332G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.649G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.158G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.274G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2631G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.660G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*318G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.373G>A
hgvsp: ENSP00000360136.3:p.Asp125Asn
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.533G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.530G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.434G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*273G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1195
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39209
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 8205
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

GenotypeQuality
all individuals: 7845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48916
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 5.868e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 7.066996e6

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.128e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.434C>G
hgvsp: ENSP00000346328.7:p.Pro145Arg
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.430C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2647C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.50C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2318C>G
hgvsp: ENSP00000360143.4:p.Pro773Arg
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.505C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.254C>G
hgvsp: ENSP00000474802.1:p.Pro85Arg
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1720C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.300C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.446C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.546C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.724C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*334C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.683C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.676C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.420C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.359C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.348C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.548C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.521C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.290C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.389C>G
hgvsp: ENSP00000304472.10:p.Pro130Arg
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2149
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8205
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1184
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39209
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1096
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1195
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 48916
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 701
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7844
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.716e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.54e-2

DP
type: SiteQuality
SIO_000300: 7.066892e6

FS
type: SiteQuality
SIO_000300: 8.353999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.068e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.125e1

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390C>G
hgvsp: ENST00000306090.10:c.390C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.451C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.547C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390C>G
hgvsp: ENST00000371095.3:c.390C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435C>G
hgvsp: ENST00000354359.7:c.435C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319C>G
hgvsp: ENST00000371102.4:c.2319C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.725C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387C>G
hgvsp: ENST00000265620.7:c.387C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2648C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.255C>G
hgvsp: ENST00000603546.1:c.255C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361C>G
hgvsp: ENST00000371100.4:c.2361C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.255C>G
hgvsp: ENST00000604005.1:c.255C>G(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506C>G
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421C>G
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1274
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8202
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1197
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39214
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1181
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48922
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 7.071738e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.349C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475C>T
hgvsp: ENST00000450130.1:c.475C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.451C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.725C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387C>T
hgvsp: ENST00000265620.7:c.387C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.506C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.684C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361C>T
hgvsp: ENST00000371100.4:c.2361C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435C>T
hgvsp: ENST00000354359.7:c.435C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390C>T
hgvsp: ENST00000371095.3:c.390C>T(p.%3D)
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*338C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
clinical significance: not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8202
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2146
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 550
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1263
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1181
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 39214
bin: 9.75e1
variant carriers: 314

GenotypeDepth
all individuals: 1197
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1097
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48922
bin: 9.75e1
variant carriers: 323

GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.146538807311957e-4
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036448436690275e-3
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 290
allele frequency: 2.786853738227945e-2
allele num: 10406
num of homozygotes: 3

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 7.071738e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.373+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*338+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.506+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.684+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.725+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+10A>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+10A>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1058
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1188
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1094
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1208
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8200
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1296
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 700
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39137
bin: 9.75e1
variant carriers: 30

GenotypeDepth
all individuals: 931
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48925
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 7839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 28
allele frequency: 1.695736434108527e-3
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.142e0

DP
type: SiteQuality
SIO_000300: 7.048455e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.213e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.349+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.447+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.684+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.255+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+11C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+11C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1296
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 701
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39131
bin: 9.75e1
variant carriers: 13

GenotypeDepth
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8200
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 806
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48927
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.873062015503876e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.229e1

DP
type: SiteQuality
SIO_000300: 7.046814e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.193e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 3.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.255+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467227
gene symbol: GNAS
hgvsc: ENST00000467227.1:n.373+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000472183
gene symbol: GNAS
hgvsc: ENST00000472183.1:n.684+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480232
gene symbol: GNAS
hgvsc: ENST00000480232.1:n.451+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.360+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+11C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+11C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 806
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 701
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2145
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1296
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1280
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8200
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39131
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48927
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.193e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 7.046814e6

FS
type: SiteQuality
SIO_000300: 3.469e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.255+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360126
ensembl transcript: ENST00000371085
gene symbol: GNAS
hgvsc: ENST00000371085.3:c.432+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.255+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000469431
gene symbol: GNAS
hgvsc: ENST00000469431.1:n.549+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+14C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+14C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1297
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39125
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2144
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 807
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8200
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1210
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48928
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491759065028469e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 7.046153e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.147e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.447+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.360+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000481039
gene symbol: GNAS
hgvsc: ENST00000481039.1:n.349+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*338+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476196
gene symbol: GNAS
hgvsc: ENST00000476196.1:n.725+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+15G>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387+15G>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1297
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2142
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 807
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1210
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39129
bin: 9.75e1
variant carriers: 44

GenotypeDepth
all individuals: 8199
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.348516631705124e-4
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.733302519066328e-3
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.478682170542636e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 7.046675e6

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.443e0

QD
type: SiteQuality
SIO_000300: 1.213e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.360+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*338+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.255+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+17C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+17C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39116
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2142
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8198
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

DP
type: SiteQuality
SIO_000300: 7.043692e6

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

FS
type: SiteQuality
SIO_000300: 1.199e0

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.926e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000477931
gene symbol: GNAS
hgvsc: ENST00000477931.1:n.547+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.506+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2648+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+17C>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+17C>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1090
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39116
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2142
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8198
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
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: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.043692e6

FS
type: SiteQuality
SIO_000300: 1.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.039e0

MQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.926e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474219
ensembl transcript: ENST00000604005
gene symbol: GNAS
hgvsc: ENST00000604005.1:c.255+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464788
gene symbol: GNAS
hgvsc: ENST00000464788.1:n.360+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2648+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000412424
ensembl transcript: ENST00000450130
gene symbol: GNAS
hgvsc: ENST00000450130.1:c.475+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265621
ensembl transcript: ENST00000349036
gene symbol: GNAS
hgvsc: ENST00000349036.3:c.483+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.506+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000323571
ensembl transcript: ENST00000313949
gene symbol: GNAS
hgvsc: ENST00000313949.7:c.*335+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+20G>T
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+20G>T
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 39116
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8198
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1089
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2143
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 808
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.115e-1

DP
type: SiteQuality
SIO_000300: 7.043537e6

FS
type: SiteQuality
SIO_000300: 3.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.437e0

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.073e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000416234
ensembl transcript: ENST00000419558
gene symbol: GNAS
hgvsc: ENST00000419558.1:c.*290+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000476935
gene symbol: GNAS
hgvsc: ENST00000476935.1:n.421+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000265620
ensembl transcript: ENST00000265620
gene symbol: GNAS
hgvsc: ENST00000265620.7:c.387+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2648+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000496934
gene symbol: GNAS
hgvsc: ENST00000496934.1:n.1721+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488652
gene symbol: GNAS
hgvsc: ENST00000488652.1:n.522+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000474802
ensembl transcript: ENST00000603546
gene symbol: GNAS
hgvsc: ENST00000603546.1:c.255+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000494081
gene symbol: GNAS
hgvsc: ENST00000494081.1:n.175+29T>C
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360115
ensembl transcript: ENST00000371075
gene symbol: GNAS
hgvsc: ENST00000371075.3:c.*338+29T>C
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2140
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8196
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39116
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 808
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1086
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 416
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1061
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1194
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48932
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 265
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e0

DP
type: SiteQuality
SIO_000300: 7.043319e6

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 1.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000304472
ensembl transcript: ENST00000306090
gene symbol: GNAS
hgvsc: ENST00000306090.10:c.390+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000464624
gene symbol: GNAS
hgvsc: ENST00000464624.2:n.2648+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000482112
gene symbol: GNAS
hgvsc: ENST00000482112.1:n.506+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360141
ensembl transcript: ENST00000371100
gene symbol: GNAS
hgvsc: ENST00000371100.4:c.2361+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360136
ensembl transcript: ENST00000371095
gene symbol: GNAS
hgvsc: ENST00000371095.3:c.390+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000480975
gene symbol: GNAS
hgvsc: ENST00000480975.1:n.431+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000470512
gene symbol: GNAS
hgvsc: ENST00000470512.1:n.506+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000493958
gene symbol: GNAS
hgvsc: ENST00000493958.1:n.51+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487981
gene symbol: GNAS
hgvsc: ENST00000487981.1:n.169+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000478585
gene symbol: GNAS
hgvsc: ENST00000478585.1:n.445+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000346328
ensembl transcript: ENST00000354359
gene symbol: GNAS
hgvsc: ENST00000354359.7:c.435+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000492907
gene symbol: GNAS
hgvsc: ENST00000492907.1:n.383+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000485673
gene symbol: GNAS
hgvsc: ENST00000485673.1:n.677+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000468895
gene symbol: GNAS
hgvsc: ENST00000468895.1:n.301+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000488546
gene symbol: GNAS
hgvsc: ENST00000488546.1:n.291+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl protein: ENSP00000360143
ensembl transcript: ENST00000371102
gene symbol: GNAS
hgvsc: ENST00000371102.4:c.2319+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000490374
gene symbol: GNAS
hgvsc: ENST00000490374.1:n.550+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000467321
gene symbol: GNAS
hgvsc: ENST00000467321.1:n.447+33C>A
variant of: http://identifiers.org/hgnc/4392

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000087460
ensembl transcript: ENST00000487862
gene symbol: GNAS
hgvsc: ENST00000487862.1:n.666+33C>A
variant of: http://identifiers.org/hgnc/4392

GenotypeDepth
all individuals: 1300
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.5e0
variant carriers: 0