12-49397605-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397605
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397605
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.756T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5132A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.542T>C
  hgvsp: ENSP00000448972.1:p.Val181Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.386T>C
  hgvsp: ENSP00000378599.3:p.Val129Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5132A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.992T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.660T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.665T>C
  hgvsp: ENSP00000323867.5:p.Val222Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.358T>C
  hgvsp: ENSP00000447671.1:p.Ser120Pro
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5132A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.638T>C
  hgvsp: ENSP00000447433.1:p.Val213Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.485T>C
  hgvsp: ENSP00000448873.1:p.Val162Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.436T>C
  hgvsp: ENSP00000449121.1:p.Ser146Pro
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.386T>C
  hgvsp: ENSP00000450112.1:p.Val129Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5132A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*438T>C
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val222Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-49397606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397606
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397606
    reference: chr 12
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*437G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5133C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.357G>A
  hgvsp: ENST00000551696.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.637G>A
  hgvsp: ENSP00000447433.1:p.Val213Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.385G>A
  hgvsp: ENSP00000450112.1:p.Val129Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.664G>A
  hgvsp: ENSP00000323867.5:p.Val222Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.991G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5133C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.541G>A
  hgvsp: ENSP00000448972.1:p.Val181Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.385G>A
  hgvsp: ENSP00000378599.3:p.Val129Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.484G>A
  hgvsp: ENSP00000448873.1:p.Val162Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.755G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5133C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5133C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.659G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.435G>A
  hgvsp: ENST00000551770.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val222Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

12-49397607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397607
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397607
    reference: chr 12
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.663C>T
  hgvsp: ENST00000316299.5:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.754C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.658C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5134G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.483C>T
  hgvsp: ENST00000547306.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5134G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*436C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.540C>T
  hgvsp: ENST00000552212.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.434C>T
  hgvsp: ENSP00000449121.1:p.Pro145Leu
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.356C>T
  hgvsp: ENSP00000447671.1:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5134G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.384C>T
  hgvsp: ENST00000395170.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.384C>T
  hgvsp: ENST00000548950.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.990C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5134G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.636C>T
  hgvsp: ENST00000548065.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro145Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-49397610-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397610
    reference: chr 12
allele count: 2
allele frequency: 1.652865241896828e-5
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.480C>T
  hgvsp: ENST00000547306.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.987C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.537C>T
  hgvsp: ENST00000552212.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.633C>T
  hgvsp: ENST00000548065.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.353C>T
  hgvsp: ENSP00000447671.1:p.Pro118Leu
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5137G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.381C>T
  hgvsp: ENST00000395170.3:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5137G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.381C>T
  hgvsp: ENST00000548950.1:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.431C>T
  hgvsp: ENSP00000449121.1:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5137G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.751C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.660C>T
  hgvsp: ENST00000316299.5:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.655C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*433C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5137G>A
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro144Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-49397618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397618
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397618
    reference: chr 12
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.423A>G
  hgvsp: ENST00000551770.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.979A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5145T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.743A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.625A>G
  hgvsp: ENSP00000447433.1:p.Thr209Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.647A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.373A>G
  hgvsp: ENSP00000378599.3:p.Thr125Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.652A>G
  hgvsp: ENSP00000323867.5:p.Thr218Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5145T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.345A>G
  hgvsp: ENST00000551696.1:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.529A>G
  hgvsp: ENSP00000448972.1:p.Thr177Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.373A>G
  hgvsp: ENSP00000450112.1:p.Thr125Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.472A>G
  hgvsp: ENSP00000448873.1:p.Thr158Ala
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5145T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*425A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5145T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr218Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

12-49397631-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397631
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397631
    reference: chr 12
allele count: 2
allele frequency: 1.65508109897385e-5
allele num: 120840
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.639T>C
  hgvsp: ENST00000316299.5:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.410T>C
  hgvsp: ENSP00000449121.1:p.Leu137Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.612T>C
  hgvsp: ENST00000548065.1:c.612T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.360T>C
  hgvsp: ENST00000548950.1:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.360T>C
  hgvsp: ENST00000395170.3:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5158A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.516T>C
  hgvsp: ENST00000552212.1:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.332T>C
  hgvsp: ENSP00000447671.1:p.Leu111Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.459T>C
  hgvsp: ENST00000547306.1:c.459T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5158A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.634T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.966T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.730T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*412T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5158A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5158A>G
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu137Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

12-49397644-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397644
    reference: chr 12
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.621C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.347C>A
  hgvsp: ENSP00000450112.1:p.Thr116Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.626C>A
  hgvsp: ENSP00000323867.5:p.Thr209Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.397C>A
  hgvsp: ENSP00000449121.1:p.Pro133Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.347C>A
  hgvsp: ENSP00000378599.3:p.Thr116Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5171G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.446C>A
  hgvsp: ENSP00000448873.1:p.Thr149Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.953C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.319C>A
  hgvsp: ENSP00000447671.1:p.Pro107Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5171G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.599C>A
  hgvsp: ENSP00000447433.1:p.Thr200Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*399C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.503C>A
  hgvsp: ENSP00000448972.1:p.Thr168Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5171G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5171G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.717C>A
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr209Asn
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

12-49397653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397653
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397653
    reference: chr 12
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.494A>G
  hgvsp: ENSP00000448972.1:p.Gln165Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5180T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.388A>G
  hgvsp: ENSP00000449121.1:p.Arg130Gly
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.944A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.617A>G
  hgvsp: ENSP00000323867.5:p.Gln206Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.310A>G
  hgvsp: ENSP00000447671.1:p.Arg104Gly
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.708A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.338A>G
  hgvsp: ENSP00000450112.1:p.Gln113Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.338A>G
  hgvsp: ENSP00000378599.3:p.Gln113Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5180T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.437A>G
  hgvsp: ENSP00000448873.1:p.Gln146Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.590A>G
  hgvsp: ENSP00000447433.1:p.Gln197Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5180T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5180T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.612A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*390A>G
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln206Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-49397666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397666
    reference: chr 12
allele count: 1
allele frequency: 8.43981567442567e-6
allele num: 118486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5193G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.599C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5193G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.931C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.297C>T
  hgvsp: ENST00000551696.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.604C>T
  hgvsp: ENST00000316299.5:c.604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.695C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5193G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.424C>T
  hgvsp: ENST00000547306.1:c.424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.325C>T
  hgvsp: ENST00000548950.1:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.375C>T
  hgvsp: ENST00000551770.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.481C>T
  hgvsp: ENST00000551121.1:c.481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.577C>T
  hgvsp: ENST00000548065.1:c.577C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.481C>T
  hgvsp: ENST00000552212.1:c.481C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5193G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.325C>T
  hgvsp: ENST00000395170.3:c.325C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu202Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-49397677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397677
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397677
    reference: chr 12
allele count: 11
allele frequency: 9.37622530217017e-5
allele num: 117318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.413T>C
  hgvsp: ENSP00000448873.1:p.Met138Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.314T>C
  hgvsp: ENSP00000378599.3:p.Met105Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*366T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.684T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5204A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.566T>C
  hgvsp: ENSP00000447433.1:p.Met189Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.314T>C
  hgvsp: ENSP00000450112.1:p.Met105Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.470T>C
  hgvsp: ENSP00000448972.1:p.Met157Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5204A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5204A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.588T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.364T>C
  hgvsp: ENSP00000449121.1:p.Cys122Arg
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.470T>C
  hgvsp: ENSP00000449637.1:p.Met157Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.920T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5204A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.593T>C
  hgvsp: ENSP00000323867.5:p.Met198Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.286T>C
  hgvsp: ENSP00000447671.1:p.Cys96Arg
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met198Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-49397678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397678
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397678
    reference: chr 12
allele count: 1
allele frequency: 8.532132009146445e-6
allele num: 117204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.919A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.412A>G
  hgvsp: ENSP00000448873.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.313A>G
  hgvsp: ENSP00000450112.1:p.Met105Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.592A>G
  hgvsp: ENSP00000323867.5:p.Met198Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5205T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.285A>G
  hgvsp: ENST00000551696.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.363A>G
  hgvsp: ENST00000551770.1:c.363A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5205T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.469A>G
  hgvsp: ENSP00000449637.1:p.Met157Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.313A>G
  hgvsp: ENSP00000378599.3:p.Met105Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5205T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.469A>G
  hgvsp: ENSP00000448972.1:p.Met157Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5205T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.565A>G
  hgvsp: ENSP00000447433.1:p.Met189Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*365A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.683A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.587A>G
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met198Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

12-49397694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397694
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397694
    reference: chr 12
allele count: 2
allele frequency: 1.730702665282105e-5
allele num: 115560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.571C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.396C>T
  hgvsp: ENST00000547306.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5221G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.903C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.667C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.453C>T
  hgvsp: ENST00000551121.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.576C>T
  hgvsp: ENST00000316299.5:c.576C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.297C>T
  hgvsp: ENST00000548950.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.269C>T
  hgvsp: ENSP00000447671.1:p.Ser90Phe
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5221G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5221G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5221G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.347C>T
  hgvsp: ENSP00000449121.1:p.Ser116Phe
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.453C>T
  hgvsp: ENST00000552212.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.549C>T
  hgvsp: ENST00000548065.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.297C>T
  hgvsp: ENST00000395170.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser116Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

12-49397701-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397701
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397701
    reference: chr 12
allele count: 5
allele frequency: 4.354186986205936e-5
allele num: 114832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.446C>G
  hgvsp: ENSP00000449637.1:p.Thr149Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.660C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.389C>G
  hgvsp: ENSP00000448873.1:p.Thr130Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*342C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.564C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5228G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.290C>G
  hgvsp: ENSP00000450112.1:p.Thr97Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.262C>G
  hgvsp: ENSP00000447671.1:p.Leu88Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.542C>G
  hgvsp: ENSP00000447433.1:p.Thr181Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.340C>G
  hgvsp: ENSP00000449121.1:p.Leu114Val
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.446C>G
  hgvsp: ENSP00000448972.1:p.Thr149Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.896C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.290C>G
  hgvsp: ENSP00000378599.3:p.Thr97Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5228G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5228G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5228G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.569C>G
  hgvsp: ENSP00000323867.5:p.Thr190Ser
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr190Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-49397717-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397717
    reference: chr 12
allele count: 1
allele frequency: 8.810572687224669e-6
allele num: 113500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.258-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.538-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.892-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5244A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.442-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.560-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5244A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.385-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5244A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.286-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.565-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.656-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5244A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.442-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*338-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.336-12T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.286-12T>C
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-49397723-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397723
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397723
    reference: chr 12
allele count: 1
allele frequency: 8.856611460455229e-6
allele num: 112910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.385-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.258-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5250A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5250A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.336-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.286-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.560-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.442-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.442-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5250A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.656-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5250A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*338-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.565-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.286-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.538-18T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.892-18T>G
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-49397739-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397739
    reference: chr 12
allele count: 1
allele frequency: 9.016807328860996e-6
allele num: 110904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.442-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.336-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.560-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.258-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.286-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.892-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5266C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5266C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.656-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.538-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.442-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5266C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*338-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.286-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.385-34G>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5266C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.565-34G>T
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-49397749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397749
    reference: chr 12
allele count: 1
allele frequency: 9.048791081511509e-6
allele num: 110512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.286-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.336-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.258-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.656-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5276C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.286-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5276C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.892-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.538-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.442-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5276C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.385-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.442-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*338-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.565-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.560-44G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5276C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

12-49397754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49397754
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49397754
    reference: chr 12
allele count: 1
allele frequency: 9.082157193976713e-6
allele num: 110106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5281T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.538-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.258-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.565-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5281T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.656-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.560-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.293+5281T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.286-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.442-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.286-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.892-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*338-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.442-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.385-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.336-49A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.314+5281T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-49398240-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398240
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398240
    reference: chr 12
allele count: 5
allele frequency: 4.127047015319599e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5767A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+507T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.941T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5767A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+50T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4852A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4858A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+507T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+50T>A
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

12-49398243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398243
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398243
    reference: chr 12
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+504G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5770C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4855C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5770C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+504G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.938G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+47G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4849C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

12-49398251-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398247
    reference: chr 12
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+35_441+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+35_285+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+35_891+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+35_655+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+35_441+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5781_319+5784delAAAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4838_294-4835delAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+492_257+495delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+35_*337+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5781_324+5784delAAAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.926_929delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4844_315-4841delAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+35_384+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+35_285+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+35_537+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+492_335+495delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+35_564+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+35_559+38delTTTT
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: GAAAA
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-49398251-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398251
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398252
    reference: chr 12
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+495dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.929dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+495dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5784dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4835dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+38dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4841dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5784dupA
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-49398259-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398258
    reference: chr 12
allele count: 2
allele frequency: 1.649266900862567e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.921delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5787delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5787delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4832delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+30delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+487delC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4838delG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+487delC
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49398260-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398261
    reference: chr 12
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5793dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.920dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4826dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5793dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4832dupA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+29dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+486dupT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+486dupT
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-49398263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398263
    reference: chr 12
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+484T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5790A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+484T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4835A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5790A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.918T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4829A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+27T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+27T>C
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-49398264-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398261
    reference: chr 12
allele count: 2
allele frequency: 1.64883180266781e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+480_335+482delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+23_441+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+23_285+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+23_*337+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+23_559+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+23_441+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+23_384+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.914_916delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+23_537+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+23_655+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5794_319+5796delGAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5794_324+5796delGAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4831_315-4829delGAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+23_564+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+23_891+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+23_285+25delCTT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4825_294-4823delGAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+480_257+482delCTT
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AAAG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-49398269-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398269
    reference: chr 12
allele count: 5
allele frequency: 4.121332014507089e-5
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5796A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.912T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4823A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+478T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+21T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+478T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5796A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4829A>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-49398280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398280
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.901C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4812G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+467C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5807G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5807G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4818G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+10C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+467C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+10C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-49398283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398283
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.441+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.441+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.891+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*337+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.384+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.564+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.285+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+464G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4809C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.285+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5810C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.898G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.537+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+464G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4815C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.559+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.655+7G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5810C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.564+7G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49398329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398329
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398329
    reference: chr 12
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.402C>T
  hgvsp: ENST00000552212.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5856G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.520C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.246C>T
  hgvsp: ENST00000395170.3:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+418C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.525C>T
  hgvsp: ENST00000316299.5:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4769G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.852C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.402C>T
  hgvsp: ENST00000551121.1:c.402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.616C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.345C>T
  hgvsp: ENST00000547306.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5856G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.852C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*298C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.498C>T
  hgvsp: ENST00000548065.1:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.246C>T
  hgvsp: ENST00000548950.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+418C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4763G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile175Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-49398329-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398329
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398329
    reference: chr 12
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.402C>A
  hgvsp: ENST00000551121.1:c.402C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.246C>A
  hgvsp: ENST00000395170.3:c.246C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.525C>A
  hgvsp: ENST00000316299.5:c.525C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.520C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+418C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.616C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5856G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.246C>A
  hgvsp: ENST00000548950.1:c.246C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*298C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4769G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.402C>A
  hgvsp: ENST00000552212.1:c.402C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.852C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.345C>A
  hgvsp: ENST00000547306.1:c.345C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5856G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4763G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+418C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.498C>A
  hgvsp: ENST00000548065.1:c.498C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.852C>A
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile175Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

12-49398332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398332
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.342C>T
  hgvsp: ENST00000547306.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.399C>T
  hgvsp: ENST00000551121.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.399C>T
  hgvsp: ENST00000552212.1:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.243C>T
  hgvsp: ENST00000395170.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.849C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.613C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+415C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+415C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.849C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.522C>T
  hgvsp: ENST00000316299.5:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.495C>T
  hgvsp: ENST00000548065.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4766G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.243C>T
  hgvsp: ENST00000548950.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5859G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.517C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5859G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4760G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr174Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

12-49398352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398352
    reference: chr 12
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.475G>A
  hgvsp: ENSP00000447433.1:p.Glu159Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.379G>A
  hgvsp: ENSP00000448972.1:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.223G>A
  hgvsp: ENSP00000378599.3:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.829G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5879C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.322G>A
  hgvsp: ENSP00000448873.1:p.Glu108Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4740C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.593G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.502G>A
  hgvsp: ENSP00000323867.5:p.Glu168Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.829G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.379G>A
  hgvsp: ENSP00000449637.1:p.Glu127Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+395G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.497G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.223G>A
  hgvsp: ENSP00000450112.1:p.Glu75Lys
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4746C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+395G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5879C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu168Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-49398355-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398355
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398355
    reference: chr 12
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: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.826C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.826C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.499C>A
  hgvsp: ENSP00000323867.5:p.Pro167Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.590C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4737G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.472C>A
  hgvsp: ENSP00000447433.1:p.Pro158Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*272C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.376C>A
  hgvsp: ENSP00000449637.1:p.Pro126Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.220C>A
  hgvsp: ENSP00000450112.1:p.Pro74Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.376C>A
  hgvsp: ENST00000552463.1:c.376C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.376C>A
  hgvsp: ENSP00000448972.1:p.Pro126Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5882G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.319C>A
  hgvsp: ENSP00000448873.1:p.Pro107Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.220C>A
  hgvsp: ENSP00000378599.3:p.Pro74Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+392C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.494C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5882G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+392C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4743G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro167Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-49398360-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398360
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.371T>C
  hgvsp: ENSP00000448972.1:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*267T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.585T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.314T>C
  hgvsp: ENSP00000448873.1:p.Ile105Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.494T>C
  hgvsp: ENSP00000323867.5:p.Ile165Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.467T>C
  hgvsp: ENSP00000447433.1:p.Ile156Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.371T>C
  hgvsp: ENSP00000449637.1:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.215T>C
  hgvsp: ENSP00000378599.3:p.Ile72Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+387T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.821T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.371T>C
  hgvsp: ENSP00000448251.1:p.Ile124Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.215T>C
  hgvsp: ENSP00000450112.1:p.Ile72Thr
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.821T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5887A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5887A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+387T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4732A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.489T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4738A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile165Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

12-49398360-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398360
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.371T>A
  hgvsp: ENSP00000448972.1:p.Ile124Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.215T>A
  hgvsp: ENSP00000450112.1:p.Ile72Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.215T>A
  hgvsp: ENSP00000378599.3:p.Ile72Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4732A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.821T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.489T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*267T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.467T>A
  hgvsp: ENSP00000447433.1:p.Ile156Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.821T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.371T>A
  hgvsp: ENSP00000448251.1:p.Ile124Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5887A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.314T>A
  hgvsp: ENSP00000448873.1:p.Ile105Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.371T>A
  hgvsp: ENSP00000449637.1:p.Ile124Asn
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+387T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5887A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+387T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.585T>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4738A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.494T>A
  hgvsp: ENSP00000323867.5:p.Ile165Asn
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile165Asn
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-49398364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398364
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398364
    reference: chr 12
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5891C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+383G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.367G>A
  hgvsp: ENSP00000448251.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+383G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*263G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5891C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.310G>A
  hgvsp: ENSP00000448873.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.817G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.490G>A
  hgvsp: ENSP00000323867.5:p.Val164Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.367G>A
  hgvsp: ENSP00000449637.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.485G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.211G>A
  hgvsp: ENSP00000450112.1:p.Val71Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.211G>A
  hgvsp: ENSP00000378599.3:p.Val71Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.817G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.463G>A
  hgvsp: ENSP00000447433.1:p.Val155Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.367G>A
  hgvsp: ENSP00000448972.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.581G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4728C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4734C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val164Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-49398388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398388
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398388
    reference: chr 12
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.187C>T
  hgvsp: ENSP00000378599.3:p.Arg63Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.466C>T
  hgvsp: ENSP00000323867.5:p.Arg156Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.343C>T
  hgvsp: ENSP00000448972.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.793C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.343C>T
  hgvsp: ENSP00000449637.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.343C>T
  hgvsp: ENSP00000448251.1:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+359C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.439C>T
  hgvsp: ENSP00000447433.1:p.Arg147Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.286C>T
  hgvsp: ENSP00000448873.1:p.Arg96Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.557C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5915G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.461C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.793C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+359C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.187C>T
  hgvsp: ENSP00000450112.1:p.Arg63Trp
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4710G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5915G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4704G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg156Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-49398431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398431
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398431
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.750C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+316C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4667G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.750C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5958G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4661G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+316C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5958G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-15C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-15C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-49398439-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398439
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+308T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.742T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5966A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.742T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4653A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+308T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5966A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-23T>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4659A>C
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

12-49398443-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398443
    reference: chr 12
allele count: 6
allele frequency: 4.943479550472926e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.738A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+304A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4649T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5970T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.738A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+304A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4655T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-27A>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5970T>G
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-49398444-CCACAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398444
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398439
    reference: chr 12
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-33_315-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-33_411-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5972_319+5976delCACAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-33_315-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4653_315-4649delCACAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.732_736delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4647_294-4643delCACAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-33_529-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-33_438-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+298_335+302delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.732_736delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-33_159-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-33_258-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-33_315-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-33_433-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-33_*211-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5972_324+5976delCACAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+298_257+302delCTGTG
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-33_159-29delCTGTG
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: CCACAG
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49398449-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398449
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4649G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5976G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4643G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+298C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5976G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.732C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.732C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+298C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-33C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-33C>G
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

12-49398450-T-TGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398450
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398453
    reference: chr 12
allele count: 6
allele frequency: 4.943561011782154e-5
allele num: 121370
alternate allele: TGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-35_315-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-35_411-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.730_731insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+296_335+297insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4641_294-4640insGGG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-35_*211-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5978_319+5979insGGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.730_731insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-35_433-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-35_315-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5978_324+5979insGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-35_159-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-35_258-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-35_315-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+296_257+297insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-35_529-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4647_315-4646insGGG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-35_159-34insCCC
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-35_438-34insCCC
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

12-49398458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398458
    reference: chr 12
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+289G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.723G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5985C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5985C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.723G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4640C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-42G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+289G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4634C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-42G>A
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-49398466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398466
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398466
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.159-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+281C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.411-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.258-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.438-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.529-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.315-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.433-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+5993G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4626G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.715C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.715C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+5993G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*211-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.315-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4632G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.159-50C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+281C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.315-50C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31559
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

12-49398699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398699
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398699
    reference: chr 12
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4399T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6226T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.482A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6226T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.482A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4393T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+48A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+48A>G
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-49398700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398700
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398700
    reference: chr 12
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.481C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6227G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6227G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.481C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4398G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+47C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4392G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

12-49398702-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398702
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398702
    reference: chr 12
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4396C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.479G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.479G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4390C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6229C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+45G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6229C>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

12-49398704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398704
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398704
    reference: chr 12
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.477T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6231A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.477T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6231A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4388A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+43T>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4394A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+43T>C
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

12-49398712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398712
    reference: chr 12
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6239T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6239T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.469A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.469A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4386T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4380T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+35A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+35A>G
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-49398714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398714
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398714
    reference: chr 12
allele count: 5
allele frequency: 4.127455836222553e-5
allele num: 121140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.467G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6241C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.467G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4384C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4378C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6241C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+33G>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+33G>A
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35098
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-49398715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398715
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398715
    reference: chr 12
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4377G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4383G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.466C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.466C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+32C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+32C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

12-49398717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398717
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398717
    reference: chr 12
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4375T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6244T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6244T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.464A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4381T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+30A>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.464A>G
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-49398720-TTGGACAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398720
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398712
    reference: chr 12
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.453_460delTCTGTCCA
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.453_460delTCTGTCCA
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: TTGGACAGA
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

12-49398730-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398730
    reference: chr 12
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4362G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6257G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.451C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6257G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.451C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+17C>G
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4368G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+17C>G
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

12-49398730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398730
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398730
    reference: chr 12
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.451C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4362G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6257G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4368G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+17C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6257G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.451C>A
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+17C>A
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-49398736-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398736
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398736
    reference: chr 12
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.445G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6263C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.445G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4356C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6263C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4362C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+11G>C
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+11G>C
  variant of: http://identifiers.org/hgnc/9385
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-49398739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398739
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398739
    reference: chr 12
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.410+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.314+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*210+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6266G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.437+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.257+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.257+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.432+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.158+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.335+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.158+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.314+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.442C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.528+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.314+8C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4359G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4353G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6266G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.442C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.437+8C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-49398757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398757
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398757
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.325C>T
  hgvsp: ENSP00000449121.1:p.Pro109Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.424C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.247C>T
  hgvsp: ENSP00000448873.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.148C>T
  hgvsp: ENSP00000450112.1:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.400C>T
  hgvsp: ENSP00000447433.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.148C>T
  hgvsp: ENSP00000378599.3:p.Pro50Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.427C>T
  hgvsp: ENSP00000323867.5:p.Pro143Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6284G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4335G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.304C>T
  hgvsp: ENSP00000449637.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.518C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.424C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6284G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.422C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.247C>T
  hgvsp: ENSP00000447671.1:p.Pro83Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.304C>T
  hgvsp: ENSP00000448251.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.304C>T
  hgvsp: ENSP00000448972.1:p.Pro102Ser
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4341G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*200C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro143Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-49398760-A-AAATGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398760
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398765
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: AAATGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4336_315-4332dupATGCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.296_300dupGCATT
  hgvsp: ENSP00000448972.1:p.Ser101AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.416_420dupGCATT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.239_243dupGCATT
  hgvsp: ENSP00000447671.1:p.Ser82AlafsTer9
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.419_423dupGCATT
  hgvsp: ENSP00000323867.5:p.Ser142AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.140_144dupGCATT
  hgvsp: ENSP00000450112.1:p.Ser49AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.140_144dupGCATT
  hgvsp: ENSP00000378599.3:p.Ser49AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.239_243dupGCATT
  hgvsp: ENSP00000448873.1:p.Ser82AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.296_300dupGCATT
  hgvsp: ENSP00000448251.1:p.Ser101AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.317_321dupGCATT
  hgvsp: ENSP00000449121.1:p.Ser108AlafsTer9
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.392_396dupGCATT
  hgvsp: ENSP00000447433.1:p.Ser133AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.416_420dupGCATT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.414_418dupGCATT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.510_514dupGCATT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4330_294-4326dupATGCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6289_324+6293dupATGCA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.296_300dupGCATT
  hgvsp: ENSP00000449637.1:p.Ser101AlafsTer15
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*192_*196dupGCATT
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6289_319+6293dupATGCA
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser142AlafsTer15
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-49398764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49398764
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 49398764
    reference: chr 12
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448972
  ensembl transcript: ENST00000552212
  gene symbol: PRKAG1
  hgvsc: ENST00000552212.1:c.297C>T
  hgvsp: ENST00000552212.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547395
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547395.1:n.294-4328G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550125
  gene symbol: PRKAG1
  hgvsc: ENST00000550125.1:n.415C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000549726
  gene symbol: PRKAG1
  hgvsc: ENST00000549726.1:n.417C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448251
  ensembl transcript: ENST00000552463
  gene symbol: PRKAG1
  hgvsc: ENST00000552463.1:c.297C>T
  hgvsp: ENST00000552463.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447671
  ensembl transcript: ENST00000551696
  gene symbol: PRKAG1
  hgvsc: ENST00000551696.1:c.240C>T
  hgvsp: ENST00000551696.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000450112
  ensembl transcript: ENST00000548950
  gene symbol: PRKAG1
  hgvsc: ENST00000548950.1:c.141C>T
  hgvsp: ENST00000548950.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449637
  ensembl transcript: ENST00000551121
  gene symbol: PRKAG1
  hgvsc: ENST00000551121.1:c.297C>T
  hgvsp: ENST00000551121.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000378599
  ensembl transcript: ENST00000395170
  gene symbol: PRKAG1
  hgvsc: ENST00000395170.3:c.141C>T
  hgvsp: ENST00000395170.3:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447433
  ensembl transcript: ENST00000548065
  gene symbol: PRKAG1
  hgvsc: ENST00000548065.1:c.393C>T
  hgvsp: ENST00000548065.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000447637
  ensembl transcript: ENST00000546531
  gene symbol: PRKAG1
  hgvsc: ENST00000546531.1:c.*193C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000449121
  ensembl transcript: ENST00000551770
  gene symbol: PRKAG1
  hgvsc: ENST00000551770.1:c.318C>T
  hgvsp: ENST00000551770.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552284
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552284.1:n.315-4334G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000448873
  ensembl transcript: ENST00000547306
  gene symbol: PRKAG1
  hgvsc: ENST00000547306.1:c.240C>T
  hgvsp: ENST00000547306.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000552793
  gene symbol: PRKAG1
  hgvsc: ENST00000552793.1:n.511C>T
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000547866
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000547866.1:n.319+6291G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000181929
  ensembl protein: ENSP00000323867
  ensembl transcript: ENST00000316299
  gene symbol: PRKAG1
  hgvsc: ENST00000316299.5:c.420C>T
  hgvsp: ENST00000316299.5:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9385
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000257913
  ensembl transcript: ENST00000552933
  gene symbol: RP11-386G11.5
  hgvsc: ENST00000552933.1:n.324+6291G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000181929
  ensembl transcript: ENST00000550448
  gene symbol: PRKAG1
  hgvsc: ENST00000550448.1:n.417C>T
  variant of: http://identifiers.org/hgnc/9385
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35094
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys140Cys
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 1478
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3822
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1387
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3856
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4758
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2685
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4824
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6723
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40207
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8932
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.765e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.929e0

DP
type: SiteQuality
SIO_000300: 3.073376e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.52e-1

GenotypeDepth
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4767
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3821
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4730
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 205
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variant carriers: 0

GenotypeDepth
all individuals: 896
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6692
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variant carriers: 0

GenotypeDepth
all individuals: 2685
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variant carriers: 0

GenotypeDepth
all individuals: 6030
bin: 4.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 5736
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variant carriers: 0

GenotypeQuality
all individuals: 2497
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variant carriers: 0

GenotypeQuality
all individuals: 8891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40203
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1991
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 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: 900
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: 16270
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: 1.502268425322237e-5
allele num: 66566
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 3.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 3.07361e6

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.313e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 1986
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1992
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8915
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

FS
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

DP
type: SiteQuality
SIO_000300: 3.073611e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

GenotypeDepth
all individuals: 6028
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3822
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 1989
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 40203
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 8961
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004085556356645e-5
allele num: 66576
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: 8650
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: 900
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.41e-1

FS
type: SiteQuality
SIO_000300: 1.2345e1

MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 3.073271e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.945e0

GenotypeDepth
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6027
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
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variant carriers: 0

GenotypeDepth
all individuals: 2685
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variant carriers: 0

GenotypeDepth
all individuals: 211
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GenotypeDepth
all individuals: 1957
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variant carriers: 0

GenotypeDepth
all individuals: 4768
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GenotypeDepth
all individuals: 896
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 2337
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variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
all individuals: 40201
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1078
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variant carriers: 0

GenotypeQuality
all individuals: 1984
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1191
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2498
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
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: 900
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: 11572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.669e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 3.072643e6

VQSLOD
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.067e0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 203
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GenotypeDepth
all individuals: 584
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GenotypeDepth
all individuals: 6722
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1985
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
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SIO_000300: 2.02e0

MQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.626e0

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
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ReadPosRankSum
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QD
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VQSLOD
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FS
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -4.14e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6612
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.525041176111755e-4
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BaseQRankSum
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ClippingRankSum
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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FS
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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MQ
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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European (Finnish)
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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QD
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ReadPosRankSum
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VQSLOD
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DP
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FS
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MQ
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ClippingRankSum
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQ
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VQSLOD
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DP
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FS
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.4e-3

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16510
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

South Asian
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Latino
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East Asian
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African
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MQ
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.428e0

DP
type: SiteQuality
SIO_000300: 6.12565e6

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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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