7-151292399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292399
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292399
    reference: chr 7
allele count: 1
allele frequency: 8.547592997811816e-6
allele num: 116992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.141+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.210+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.269+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.489+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*104+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.141+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.864+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*113+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.732+32G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.492+32G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

7-151292411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292411
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292411
    reference: chr 7
allele count: 7
allele frequency: 5.924772319463724e-5
allele num: 118148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.269+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.732+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.489+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*113+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.492+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.141+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.141+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.210+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*104+20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.864+20A>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25191
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-151292418-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292418
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292418
    reference: chr 7
allele count: 5
allele frequency: 4.202245680091441e-5
allele num: 118984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.489+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.864+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*113+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.141+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.269+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.732+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*104+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.210+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.492+13C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.141+13C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-151292431-TTGTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292431
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292426
    reference: chr 7
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.136_140delTTACA
  hgvsp: ENSP00000387386.2:p.Leu46SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.136_140delTTACA
  hgvsp: ENSP00000419493.1:p.Leu46SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.727_731delTTACA
  hgvsp: ENSP00000376549.2:p.Leu243SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*108_*112delTTACA
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.487_491delTTACA
  hgvsp: ENSP00000419577.1:p.Leu163SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.205_209delTTACA
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.484_488delTTACA
  hgvsp: ENSP00000406544.2:p.Leu162SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.859_863delTTACA
  hgvsp: ENSP00000287878.3:p.Leu287SerfsTer2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*99_*103delTTACA
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.264_268delTTACA
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu287SerfsTer2
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: TTGTAA
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-151292437-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292437
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292437
    reference: chr 7
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.135A>T
  hgvsp: ENST00000476632.1:c.135A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.486A>T
  hgvsp: ENST00000492843.1:c.486A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*98A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.135A>T
  hgvsp: ENST00000418337.2:c.135A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.726A>T
  hgvsp: ENST00000392801.2:c.726A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.204A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.483A>T
  hgvsp: ENST00000433631.2:c.483A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.263A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.858A>T
  hgvsp: ENST00000287878.4:c.858A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*107A>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41183
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr286Thr
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

7-151292476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292476
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292476
    reference: chr 7
allele count: 2
allele frequency: 1.650546330835507e-5
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.819C>T
  hgvsp: ENST00000287878.4:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.447C>T
  hgvsp: ENST00000492843.1:c.447C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.96C>T
  hgvsp: ENST00000418337.2:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.687C>T
  hgvsp: ENST00000392801.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.96C>T
  hgvsp: ENST00000476632.1:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.444C>T
  hgvsp: ENST00000433631.2:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.165C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.224C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile273Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-151292485-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292485
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292485
    reference: chr 7
allele count: 22
allele frequency: 1.815421177713229e-4
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.87T>C
  hgvsp: ENST00000476632.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.438T>C
  hgvsp: ENST00000492843.1:c.438T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.810T>C
  hgvsp: ENST00000287878.4:c.810T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.156T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.435T>C
  hgvsp: ENST00000433631.2:c.435T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.215T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.678T>C
  hgvsp: ENST00000392801.2:c.678T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*59T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.87T>C
  hgvsp: ENST00000418337.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys270Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

7-151292488-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292488
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292488
    reference: chr 7
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*47G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.807G>C
  hgvsp: ENSP00000287878.3:p.Lys269Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.432G>C
  hgvsp: ENSP00000406544.2:p.Lys144Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.84G>C
  hgvsp: ENSP00000387386.2:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*56G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.435G>C
  hgvsp: ENSP00000419577.1:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.153G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.84G>C
  hgvsp: ENSP00000419493.1:p.Lys28Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.675G>C
  hgvsp: ENSP00000376549.2:p.Lys225Asn
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.212G>C
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys269Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-151292488-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292488
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292488
    reference: chr 7
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.675G>A
  hgvsp: ENST00000392801.2:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.432G>A
  hgvsp: ENST00000433631.2:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.212G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.84G>A
  hgvsp: ENST00000476632.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.153G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.807G>A
  hgvsp: ENST00000287878.4:c.807G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.435G>A
  hgvsp: ENST00000492843.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.84G>A
  hgvsp: ENST00000418337.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys269Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

7-151292507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292507
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292507
    reference: chr 7
allele count: 4
allele frequency: 3.302618976848641e-5
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.134G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.193G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.65G>A
  hgvsp: ENSP00000419493.1:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.65G>A
  hgvsp: ENSP00000387386.2:p.Arg22Gln
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*28G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.788G>A
  hgvsp: ENSP00000287878.3:p.Arg263Gln
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.656G>A
  hgvsp: ENSP00000376549.2:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.413G>A
  hgvsp: ENSP00000406544.2:p.Arg138Gln
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.416G>A
  hgvsp: ENSP00000419577.1:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg263Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

7-151292509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292509
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292509
    reference: chr 7
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.191G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.654G>A
  hgvsp: ENSP00000376549.2:p.Met218Ile
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.414G>A
  hgvsp: ENSP00000419577.1:p.Met138Ile
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.63G>A
  hgvsp: ENSP00000387386.2:p.Met21Ile
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.411G>A
  hgvsp: ENSP00000406544.2:p.Met137Ile
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.786G>A
  hgvsp: ENSP00000287878.3:p.Met262Ile
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.132G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.63G>A
  hgvsp: ENSP00000419493.1:p.Met21Ile
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met262Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-151292511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292511
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292511
    reference: chr 7
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.61A>G
  hgvsp: ENSP00000419493.1:p.Met21Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.130A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.412A>G
  hgvsp: ENSP00000419577.1:p.Met138Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.784A>G
  hgvsp: ENSP00000287878.3:p.Met262Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.409A>G
  hgvsp: ENSP00000406544.2:p.Met137Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.652A>G
  hgvsp: ENSP00000376549.2:p.Met218Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.189A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*33A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.61A>G
  hgvsp: ENSP00000387386.2:p.Met21Val
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met262Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-151292524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292524
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292524
    reference: chr 7
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.48A>G
  hgvsp: ENST00000476632.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.396A>G
  hgvsp: ENST00000433631.2:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.771A>G
  hgvsp: ENST00000287878.4:c.771A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.399A>G
  hgvsp: ENST00000492843.1:c.399A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.639A>G
  hgvsp: ENST00000392801.2:c.639A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.176A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.117A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.48A>G
  hgvsp: ENST00000418337.2:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu257Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

7-151292537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292537
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292537
    reference: chr 7
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383T>C
  hgvsp: ENSP00000406544.2:p.Val128Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.626T>C
  hgvsp: ENSP00000376549.2:p.Val209Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.104T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.35T>C
  hgvsp: ENSP00000387386.2:p.Val12Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.35T>C
  hgvsp: ENSP00000419493.1:p.Val12Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.758T>C
  hgvsp: ENSP00000287878.3:p.Val253Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.688T>C
  hgvsp: ENSP00000420783.1:p.Ter230GlnextTer12
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.386T>C
  hgvsp: ENSP00000419577.1:p.Val129Ala
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*7T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.163T>C
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ter230GlnextTer12
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-151292541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292541
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292541
    reference: chr 7
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-4G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-1G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-1G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 9.25e1
  variant carriers: 0
hgvs: c.755-1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

7-151292542-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292542
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292542
    reference: chr 7
allele count: 15
allele frequency: 1.251209502519102e-4
allele num: 119884
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-5A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-2A>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-2A>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
hgvs: c.755-2A>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-151292543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292543
    reference: chr 7
allele count: 1
allele frequency: 8.366660531115611e-6
allele num: 119522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-6T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-3T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-3T>C
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
hgvs: c.755-3T>C
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

7-151292547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292547
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292547
    reference: chr 7
allele count: 61
allele frequency: 5.134161532505135e-4
allele num: 118812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-10C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-7C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-7C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
hgvs: c.755-7C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-151292557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292557
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292557
    reference: chr 7
allele count: 1
allele frequency: 8.477737461426295e-6
allele num: 117956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-17G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-20G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-17G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-151292561-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292561
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292561
    reference: chr 7
allele count: 2
allele frequency: 1.701345764499719e-5
allele num: 117554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-24T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-21T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-21T>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

7-151292564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292564
    reference: chr 7
allele count: 1
allele frequency: 8.541168431841476e-6
allele num: 117080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-27A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-24A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-24A>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-151292565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292565
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292565
    reference: chr 7
allele count: 1
allele frequency: 8.548615979072987e-6
allele num: 116978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-25G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-28G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-25G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

7-151292566-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292566
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292566
    reference: chr 7
allele count: 4
allele frequency: 3.421435292105038e-5
allele num: 116910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-29T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-26T>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-26T>C
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16969
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-151292568-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292568
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292568
    reference: chr 7
allele count: 13
allele frequency: 1.113852902872027e-4
allele num: 116712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-31A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-28A>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-28A>C
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16498
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-151292574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292574
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292574
    reference: chr 7
allele count: 1
allele frequency: 8.623365872167224e-6
allele num: 115964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-37A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-34A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-34A>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20279
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-151292587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292587
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292587
    reference: chr 7
allele count: 1
allele frequency: 8.841420285754704e-6
allele num: 113104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-47G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-50G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6260
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

7-151292592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151292592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151292592
    reference: chr 7
allele count: 110
allele frequency: 9.863347799576772e-4
allele num: 111524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.32-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.383-55C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.160-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*4-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.623-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.755-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.101-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.32-52C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.383-52C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 1.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 11380
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 3
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-151328687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328687
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328687
    reference: chr 7
allele count: 5
allele frequency: 4.071661237785016e-4
allele num: 12280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+468A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36147A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*3+37A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+468A>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

7-151328689-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328689
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328690
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12284
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.*3+34dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+465dupT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36150dupT
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

7-151328728-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328728
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328728
    reference: chr 7
allele count: 37
allele frequency: 3.003734372463062e-3
allele num: 12318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36188G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.158G>C
  hgvsp: ENSP00000417252.1:p.Ter53SerextTer3
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+427G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+427G>C
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter53SerextTer3
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

7-151328768-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328768
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328767
    reference: chr 7
allele count: 36
allele frequency: 2.921129503407984e-3
allele num: 12324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.117delT
  hgvsp: ENSP00000417252.1:p.Phe39LeufsTer12
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+386delT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36229delT
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Phe39LeufsTer12
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: TA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-151328782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328782
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328782
    reference: chr 7
allele count: 1
allele frequency: 8.115565654926148e-5
allele num: 12322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36242A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.104A>G
  hgvsp: ENSP00000417252.1:p.Gln35Arg
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+373A>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+373A>G
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln35Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-151328792-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328792
    reference: chr 7
allele count: 1
allele frequency: 8.115565654926148e-5
allele num: 12322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.94T>A
  hgvsp: ENSP00000417252.1:p.Ser32Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36252T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+363T>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+363T>A
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser32Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

7-151328796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328796
    reference: chr 7
allele count: 1
allele frequency: 8.115565654926148e-5
allele num: 12322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.90C>T
  hgvsp: ENST00000493872.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36256C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+359C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+359C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro30Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

7-151328808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328808
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328808
    reference: chr 7
allele count: 2
allele frequency: 1.622586402725945e-4
allele num: 12326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36268C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.78C>T
  hgvsp: ENST00000493872.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+347C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+347C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu26Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-151328817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328817
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328817
    reference: chr 7
allele count: 1
allele frequency: 8.111615833874107e-5
allele num: 12328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.69C>T
  hgvsp: ENST00000493872.1:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36277C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+338C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+338C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His23His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-151328895-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328895
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328895
    reference: chr 7
allele count: 2
allele frequency: 1.632919660352711e-4
allele num: 12248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.32-41G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+260G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36355G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+260G>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-151328896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151328896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151328896
    reference: chr 7
allele count: 36
allele frequency: 2.936857562408223e-3
allele num: 12258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36356C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.32-42C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+259C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+259C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

7-151329107-GGCCGGGCCGTGGGAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329107
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329091
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 10802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17493
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5754
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: GGCCGGGCCGTGGGAGC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

7-151329110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329110
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329110
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 11220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36570G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+45G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+45G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19183
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-151329113-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329113
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329113
    reference: chr 7
allele count: 2
allele frequency: 1.648804616652927e-4
allele num: 12130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36573C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+42C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+42C>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21757
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-151329128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329128
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329128
    reference: chr 7
allele count: 1
allele frequency: 4.373305344179131e-5
allele num: 22866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36588C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+27C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+27C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13603
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

7-151329132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329132
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329132
    reference: chr 7
allele count: 2
allele frequency: 6.910850034554251e-5
allele num: 28940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36592C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+23C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+23C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10611
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-151329133-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329133
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329133
    reference: chr 7
allele count: 1
allele frequency: 3.284719484955985e-5
allele num: 30444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36593C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+22C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+22C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10289
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

7-151329137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329137
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329137
    reference: chr 7
allele count: 2
allele frequency: 5.360780529645116e-5
allele num: 37308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+18G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36597G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

7-151329138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329138
    reference: chr 7
allele count: 1
allele frequency: 2.453265296109121e-5
allele num: 40762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36598C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+17C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28256
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

7-151329138-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329138
    reference: chr 7
allele count: 1
allele frequency: 2.453265296109121e-5
allele num: 40762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36598C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+17C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+17C>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14645
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7876
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-151329140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329140
    reference: chr 7
allele count: 2
allele frequency: 4.564334291843534e-5
allele num: 43818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+15C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36600C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+15C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

7-151329141-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329141
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329142
    reference: chr 7
allele count: 2
allele frequency: 4.39386616283668e-5
allele num: 45518
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.100+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.382+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.622+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.31+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36602dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.31+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.382+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.159+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.754+13dupC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.31+13dupC
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26643
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

7-151329159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329159
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329159
    reference: chr 7
allele count: 19
allele frequency: 2.657788719785139e-4
allele num: 71488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.378C>T
  hgvsp: ENST00000492843.1:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.96C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.155C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.750C>T
  hgvsp: ENST00000287878.4:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.27C>T
  hgvsp: ENST00000476632.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.618C>T
  hgvsp: ENST00000392801.2:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.27C>T
  hgvsp: ENST00000418337.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.378C>T
  hgvsp: ENST00000433631.2:c.378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.27C>T
  hgvsp: ENST00000493872.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36619C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp250Asp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-151329177-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329177
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329177
    reference: chr 7
allele count: 1
allele frequency: 1.264702162640698e-5
allele num: 79070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.360G>A
  hgvsp: ENST00000492843.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36637G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.9G>A
  hgvsp: ENST00000418337.2:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.9G>A
  hgvsp: ENST00000476632.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.78G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.360G>A
  hgvsp: ENST00000433631.2:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.137G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.9G>A
  hgvsp: ENST00000493872.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.600G>A
  hgvsp: ENST00000392801.2:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.732G>A
  hgvsp: ENST00000287878.4:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14878
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu244Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

7-151329182-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329182
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329182
    reference: chr 7
allele count: 1
allele frequency: 1.257450393581973e-5
allele num: 79526
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.727C>G
  hgvsp: ENSP00000287878.3:p.Leu243Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.4C>G
  hgvsp: ENSP00000387386.2:p.Leu2Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.355C>G
  hgvsp: ENSP00000419577.1:p.Leu119Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.132C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.355C>G
  hgvsp: ENSP00000406544.2:p.Leu119Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36642C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.595C>G
  hgvsp: ENSP00000376549.2:p.Leu199Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.4C>G
  hgvsp: ENSP00000417252.1:p.Leu2Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.73C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.4C>G
  hgvsp: ENSP00000419493.1:p.Leu2Val
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu243Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

7-151329188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329188
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329188
    reference: chr 7
allele count: 1
allele frequency: 1.252630524100611e-5
allele num: 79832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.349G>A
  hgvsp: ENSP00000406544.2:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.349G>A
  hgvsp: ENSP00000419577.1:p.Gly117Ser
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.721G>A
  hgvsp: ENSP00000287878.3:p.Gly241Ser
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.126G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36648G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.589G>A
  hgvsp: ENSP00000376549.2:p.Gly197Ser
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.67G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly241Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

7-151329189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329189
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329189
    reference: chr 7
allele count: 1
allele frequency: 1.252065908749437e-5
allele num: 79868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.720C>G
  hgvsp: ENST00000287878.4:c.720C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-4C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.125C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.588C>G
  hgvsp: ENST00000392801.2:c.588C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.348C>G
  hgvsp: ENST00000433631.2:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.348C>G
  hgvsp: ENST00000492843.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.66C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36649C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-4C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-4C>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala240Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

7-151329191-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329191
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329191
    reference: chr 7
allele count: 1
allele frequency: 1.248127808287569e-5
allele num: 80120
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.718G>A
  hgvsp: ENSP00000287878.3:p.Ala240Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.346G>A
  hgvsp: ENSP00000419577.1:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36651G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.64G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.123G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.346G>A
  hgvsp: ENSP00000406544.2:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-6G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-6G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.586G>A
  hgvsp: ENSP00000376549.2:p.Ala196Thr
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala240Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-151329197-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329197
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329197
    reference: chr 7
allele count: 12
allele frequency: 1.49719276356831e-4
allele num: 80150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-12G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.712G>A
  hgvsp: ENSP00000287878.3:p.Ala238Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.340G>A
  hgvsp: ENSP00000406544.2:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.117G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.58G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.340G>A
  hgvsp: ENSP00000419577.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.580G>A
  hgvsp: ENSP00000376549.2:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36657G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27846
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala238Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/7-151329205-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329205
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329205
    reference: chr 7
allele count: 2
allele frequency: 2.523914085964514e-5
allele num: 79242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.332T>G
  hgvsp: ENSP00000406544.2:p.Leu111Arg
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.50T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-20T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.332T>G
  hgvsp: ENSP00000419577.1:p.Leu111Arg
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36665T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-20T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.572T>G
  hgvsp: ENSP00000376549.2:p.Leu191Arg
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.704T>G
  hgvsp: ENSP00000287878.3:p.Leu235Arg
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.109T>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-20T>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu235Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-151329211-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329211
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329211
    reference: chr 7
allele count: 17
allele frequency: 2.203899605890894e-4
allele num: 77136
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.698C>G
  hgvsp: ENSP00000287878.3:p.Ala233Gly
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.566C>G
  hgvsp: ENSP00000376549.2:p.Ala189Gly
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.103C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.326C>G
  hgvsp: ENSP00000419577.1:p.Ala109Gly
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-26C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36671C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.326C>G
  hgvsp: ENSP00000406544.2:p.Ala109Gly
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.44C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-26C>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala233Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

7-151329213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329213
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329213
    reference: chr 7
allele count: 7
allele frequency: 8.945915550557203e-5
allele num: 78248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36673G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.564G>A
  hgvsp: ENST00000392801.2:c.564G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.324G>A
  hgvsp: ENST00000433631.2:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.42G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.324G>A
  hgvsp: ENST00000492843.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.101G>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.696G>A
  hgvsp: ENST00000287878.4:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-28G>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22336
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala232Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

7-151329218-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329218
    reference: chr 7
allele count: 1
allele frequency: 1.27932860834634e-5
allele num: 78166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.559C>G
  hgvsp: ENSP00000376549.2:p.Leu187Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.691C>G
  hgvsp: ENSP00000287878.3:p.Leu231Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-33C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.319C>G
  hgvsp: ENSP00000406544.2:p.Leu107Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36678C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.319C>G
  hgvsp: ENSP00000419577.1:p.Leu107Val
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-33C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.37C>G
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.96C>G
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14347
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18997
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu231Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-151329219-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329219
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329219
    reference: chr 7
allele count: 1
allele frequency: 1.286173633440514e-5
allele num: 77750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-34G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.690G>T
  hgvsp: ENST00000287878.4:c.690G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.318G>T
  hgvsp: ENST00000433631.2:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.558G>T
  hgvsp: ENST00000392801.2:c.558G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-34G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-34G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.95G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36679G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.36G>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.318G>T
  hgvsp: ENST00000492843.1:c.318G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21782
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala230Ala
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-151329228-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329228
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329227
    reference: chr 7
allele count: 1
allele frequency: 1.350657770334153e-5
allele num: 74038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-5delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36689delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-44delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-5delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-5delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-5delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.26delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-44delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-5delC
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.85delC
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
hgvs: c.685-5delC
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: AG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

7-151329229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329229
    reference: chr 7
allele count: 2
allele frequency: 2.702410550210788e-5
allele num: 74008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.26C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-5C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-5C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-44C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-5C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-5C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.85C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-5C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-44C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36689C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
hgvs: c.685-5C>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-151329229-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329229
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329229
    reference: chr 7
allele count: 1
allele frequency: 1.351205275105394e-5
allele num: 74008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-5C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-44C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.85C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36689C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-5C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.26C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-5C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-5C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-5C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-44C>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 7.5e0
  variant carriers: 1
hgvs: c.685-5C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

7-151329230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329230
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329230
    reference: chr 7
allele count: 1
allele frequency: 1.350548322618983e-5
allele num: 74044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36690C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-6C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.25C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-6C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-6C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.84C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-6C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-45C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-6C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
hgvs: c.685-6C>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-151329230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329230
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329230
    reference: chr 7
allele count: 5
allele frequency: 6.752741613094916e-5
allele num: 74044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-6C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.25C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-6C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-45C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36690C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-45C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-6C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.84C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-6C>A
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-6C>A
  variant of: http://identifiers.org/hgnc/9386
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17876
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
hgvs: c.685-6C>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

7-151329238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329238
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329238
    reference: chr 7
allele count: 1
allele frequency: 1.41643059490085e-5
allele num: 70600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36698C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-14C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-14C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.76C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.17C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-14C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-53C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-14C>T
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-14C>T
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-151329244-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329244
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329244
    reference: chr 7
allele count: 1
allele frequency: 1.461347362268011e-5
allele num: 68430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-20G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36704G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.11G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-59G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-20G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.70G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-20G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-20G>C
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-20G>C
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

7-151329244-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 151329244
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 151329242
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 68430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000387386
  ensembl transcript: ENST00000418337
  gene symbol: PRKAG2
  hgvsc: ENST00000418337.2:c.-61_-60delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000376549
  ensembl transcript: ENST00000392801
  gene symbol: PRKAG2
  hgvsc: ENST00000392801.2:c.553-22_553-21delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000491938
  gene symbol: PRKAG2
  hgvsc: ENST00000491938.1:n.9_10delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000417252
  ensembl transcript: ENST00000493872
  gene symbol: PRKAG2
  hgvsc: ENST00000493872.1:c.-61_-60delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000406544
  ensembl transcript: ENST00000433631
  gene symbol: PRKAG2
  hgvsc: ENST00000433631.2:c.313-22_313-21delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000287878
  ensembl transcript: ENST00000287878
  gene symbol: PRKAG2
  hgvsc: ENST00000287878.4:c.685-22_685-21delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419493
  ensembl transcript: ENST00000476632
  gene symbol: PRKAG2
  hgvsc: ENST00000476632.1:c.-39-22_-39-21delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000420783
  ensembl transcript: ENST00000488258
  gene symbol: PRKAG2
  hgvsc: ENST00000488258.1:c.685-36706_685-36705delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106617
  ensembl protein: ENSP00000419577
  ensembl transcript: ENST00000492843
  gene symbol: PRKAG2
  hgvsc: ENST00000492843.1:c.313-22_313-21delCT
  variant of: http://identifiers.org/hgnc/9386
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106617
  ensembl transcript: ENST00000483775
  gene symbol: PRKAG2
  hgvsc: ENST00000483775.1:n.68_69delCT
  variant of: http://identifiers.org/hgnc/9386
canonical: false
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: CAG

GenotypeQuality
all individuals: 1083
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4298
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2872
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4740
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8904
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4062
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 6.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

DP
type: SiteQuality
SIO_000300: 1.703815e6

GenotypeQuality
all individuals: 1828
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8852
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2332
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.080747259533735e-4
allele num: 64770
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.487e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

DP
type: SiteQuality
SIO_000300: 1.774007e6

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.034e1

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8852
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37388
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.08413520848754e-4
allele num: 16212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.176e0

FS
type: SiteQuality
SIO_000300: 1.965e0

DP
type: SiteQuality
SIO_000300: 1.819458e6

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeDepth
all individuals: 777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 248
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40569
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8844
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.855064e6

MQRankSum
type: SiteQuality
SIO_000300: -4.421e0

FS
type: SiteQuality
SIO_000300: 6.315e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 4.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 9.4e0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 7.75e1
variant carriers: 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: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.93e0

FS
type: SiteQuality
SIO_000300: 5.643e0

VQSLOD
type: SiteQuality
SIO_000300: -2.169e0

DP
type: SiteQuality
SIO_000300: 1.862869e6

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41957
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8846
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.44e-1

FS
type: SiteQuality
SIO_000300: 6.124e0

QD
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SIO_000300: 1.157e1

MQRankSum
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SIO_000300: -3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.875629e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 21
allele frequency: 1.273499090357793e-3
allele num: 16490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
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SIO_000300: 3.28e0

BaseQRankSum
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SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.225e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.877056e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

MQRankSum
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SIO_000300: -7.5e-2

QD
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SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 1.876118e6

MQ
type: SiteQuality
SIO_000300: 5.994e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.876118e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.771e0

QD
type: SiteQuality
SIO_000300: 1.258e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
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SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
SIO_000300: 1.875358e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.733000000000001e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.875217e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
type: Population
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66454
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South Asian
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allele frequency: 6.0790273556231e-5
allele num: 16450
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.862514e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
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DP
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SIO_000300: 1.85496e6

BaseQRankSum
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SIO_000300: -2.419e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.950458357714063e-4
allele num: 10254
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16338
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European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.974603560362112e-4
allele num: 65836
num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.87e-1

DP
type: SiteQuality
SIO_000300: 1.842727e6

MQ
type: SiteQuality
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MQRankSum
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SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 1.545e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

BaseQRankSum
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SIO_000300: 7.98e-1

FS
type: SiteQuality
SIO_000300: 5.673e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

African
type: Population
allele count: 18
allele frequency: 1.776198934280639e-3
allele num: 10134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 43
allele frequency: 6.597925489474007e-4
allele num: 65172
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 9.9407e1

InbreedingCoeff
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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SIO_000300: -3.256e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64592
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South Asian
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allele num: 16190
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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South Asian
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11232
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European (Finnish)
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allele count: 0
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
type: Population
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.988e0

DP
type: SiteQuality
SIO_000300: 1.724235e6

VQSLOD
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SIO_000300: -1.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.047e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.15e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.479851208927464e-4
allele num: 16130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.708821e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
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MQRankSum
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SIO_000300: 2.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.393e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.658e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.54e-1

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.5869140625e-3
allele num: 8192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

BaseQRankSum
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SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.481e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.699465e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577983967682888e-5
allele num: 63372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.037e1

FS
type: SiteQuality
SIO_000300: 3.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.65651e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 4.256e1

VQSLOD
type: SiteQuality
SIO_000300: -2.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.62e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 8.35e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.57681e6

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.486e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.302291790502609e-5
allele num: 60564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

South Asian
type: Population
allele count: 108
allele frequency: 6.891271056661562e-3
allele num: 15672
num of homozygotes: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
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SIO_000300: 5.29e-1

ClippingRankSum
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SIO_000300: -5.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.569124e6

QD
type: SiteQuality
SIO_000300: 1.526e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 5
allele frequency: 6.565126050420169e-4
allele num: 7616
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.525e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

FS
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.92957e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 560
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

FS
type: SiteQuality
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MQ
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DP
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

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

African
type: Population
allele count: 32
allele frequency: 5.714285714285714e-2
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.595744680851064e-2
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.763957987838585e-4
allele num: 3618
num of homozygotes: 0

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

MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.91e-2

VQSLOD
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BaseQRankSum
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SIO_000300: -4.0e-2

FS
type: SiteQuality
SIO_000300: 1.414e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

QD
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SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 36

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

African
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allele count: 31
allele frequency: 5.555555555555555e-2
allele num: 558
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 1.595744680851064e-2
allele num: 188
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.759381898454746e-4
allele num: 3624
num of homozygotes: 0

South Asian
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allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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MQRankSum
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FS
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

BaseQRankSum
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SIO_000300: 7.3e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.759381898454746e-4
allele num: 3624
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.8e-2

VQSLOD
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DP
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FS
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -2.439e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.232e1

DP
type: SiteQuality
SIO_000300: 1.96043e5

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.785714285714286e-3
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.993e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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SIO_000300: 1.3e0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Latino
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FS
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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Other
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European (Finnish)
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East Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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QD
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 31
allele frequency: 5.698529411764706e-2
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.612903225806452e-2
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.314060446780552e-4
allele num: 7610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.788622420524261e-4
allele num: 3586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 3.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

DP
type: SiteQuality
SIO_000300: 1.8905e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

GenotypeQuality
all individuals: 12
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2025
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 5213
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GenotypeQuality
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GenotypeQuality
all individuals: 4797
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GenotypeQuality
all individuals: 2086
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10268
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 2.64917e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.3e1

MQ
type: SiteQuality
SIO_000300: 4.515e1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 1100
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3338
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 2.84542e5

VQSLOD
type: SiteQuality
SIO_000300: -2.531e0

MQRankSum
type: SiteQuality
SIO_000300: -1.638e0

QD
type: SiteQuality
SIO_000300: 7.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.02e-2

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20189
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GenotypeQuality
all individuals: 2216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 1166
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 5.656108597285068e-4
allele num: 3536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 3.07392e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 666
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
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GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 12698
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GenotypeQuality
all individuals: 174
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variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 1

GenotypeQuality
all individuals: 697
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 28653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6385
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.000900090009001e-5
allele num: 11110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.106e1

VQSLOD
type: SiteQuality
SIO_000300: -5.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

DP
type: SiteQuality
SIO_000300: 4.64494e5

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

GenotypeQuality
all individuals: 595
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 2

GenotypeQuality
all individuals: 9126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 810
bin: 2.5e0
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GenotypeQuality
all individuals: 469
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GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 28758
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.355748373101952e-4
allele num: 14752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.472e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.24665e5

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
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GenotypeQuality
all individuals: 28597
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 517
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GenotypeQuality
all individuals: 9636
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.393743257820927e-4
allele num: 1854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1984
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.069e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.36236e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.01419878296146e-4
allele num: 19720
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 1.601e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 910
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27319
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

Other
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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
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.585893790699807e-5
allele num: 21806
num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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SIO_000300: 1.78e-2

QD
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VQSLOD
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 8058
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FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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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

Latino
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allele num: 3214
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.74e-2

FS
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

Latino
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allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

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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allele frequency: 7.168458781362007e-4
allele num: 2790
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.79e-2

BaseQRankSum
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SIO_000300: 4.0e-1

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 14
allele frequency: 2.348993288590604e-3
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 478
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 7.578819725141472e-5
allele num: 39584
num of homozygotes: 0

African
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South Asian
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allele frequency: 1.754693805930865e-4
allele num: 11398
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
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SIO_000300: 8.9599e5

VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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SIO_000300: 5.933e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 43648
num of homozygotes: 0

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

Latino
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South Asian
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Other
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European (Non-Finnish)
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African
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44056
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.094544277157196e-5
allele num: 12354
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.298e0

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 9.59484e5

GenotypeQuality
all individuals: 356
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12390
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.532332209623046e-4
allele num: 6526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 9.61822e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 491
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 2.5e0
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GenotypeQuality
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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: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 2.438033319788704e-3
allele num: 4922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44230
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 9.62734e5

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 387
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.127115146512588e-4
allele num: 4846
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 5.001e0

DP
type: SiteQuality
SIO_000300: 9.53316e5

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.03e1

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 22828
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 1

GenotypeQuality
all individuals: 684
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variant carriers: 0

GenotypeQuality
all individuals: 1333
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 242
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GenotypeQuality
all individuals: 541
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GenotypeQuality
all individuals: 1324
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variant carriers: 0

GenotypeQuality
all individuals: 4203
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GenotypeQuality
all individuals: 1199
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.192848020434228e-4
allele num: 3132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 3.746721618583739e-4
allele num: 42704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e-1

FS
type: SiteQuality
SIO_000300: 1.787e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 9.30338e5

GenotypeQuality
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1390
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 1707
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3358
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 7.903888713246917e-4
allele num: 6326
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.510670348983179e-4
allele num: 7966
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
SIO_000300: 3.432e1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.386e0

DP
type: SiteQuality
SIO_000300: 9.31392e5

VQSLOD
type: SiteQuality
SIO_000300: -3.609e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 305
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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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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.311604253351826e-5
allele num: 43260
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 2.729e1

DP
type: SiteQuality
SIO_000300: 9.25499e5

MQ
type: SiteQuality
SIO_000300: 5.801e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 380
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GenotypeQuality
all individuals: 470
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 8.433125316242199e-5
allele num: 11858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.923e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 9.21559e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

QD
type: SiteQuality
SIO_000300: 5.48e0

GenotypeQuality
all individuals: 1615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 2.447021974257329e-5
allele num: 40866
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European (Finnish)
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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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East Asian
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.449659497329871e-5
allele num: 40822
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East Asian
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 40822
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Latino
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African
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East Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 40850
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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MQRankSum
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FS
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 7452
num of homozygotes: 0

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