19-3054075-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054075
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054075
    reference: chr 19
allele count: 2
allele frequency: 7.042749489400662e-5
allele num: 28398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.373-37C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2107C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.254-37C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.205-37C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-619C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.572C>A
  hgvsp: ENSP00000466038.1:p.Pro192Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.609-37C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*117-37C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.574-37C>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16196
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19842
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  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 depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23824
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Pro192Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

19-3054078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054078
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+40G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+40G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+40G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.569G>A
  hgvsp: ENSP00000466038.1:p.Gly191Arg
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-622G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2104G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+40G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+40G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+40G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15792
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 2.25e1
  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: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly191Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-3054081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054081
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 27816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2101G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.566G>C
  hgvsp: ENSP00000466038.1:p.Gly190Arg
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+37G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-625G>C
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  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: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly190Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-3054084-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054084
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054085
    reference: chr 19
allele count: 1
allele frequency: 4.154549231408392e-5
allele num: 24070
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+33dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2097dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.562dupG
  hgvsp: ENSP00000466038.1:p.Thr189AspfsTer8
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+33dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+33dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-629dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+33dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+33dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+33dupG
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr189AspfsTer8
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-3054085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054085
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054085
    reference: chr 19
allele count: 1
allele frequency: 4.604051565377532e-5
allele num: 21720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+33G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2097G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+33G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.562G>A
  hgvsp: ENST00000586742.1:c.562G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+33G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+33G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+33G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-629G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+33G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly188Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-3054088-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054088
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054088
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2094G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+30G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+30G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+30G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-632G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.559G>T
  hgvsp: ENST00000586742.1:c.559G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+30G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+30G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+30G>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg187Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-3054089-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054089
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054089
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 26184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2093G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+29G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.558G>T
  hgvsp: ENSP00000466038.1:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-633G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+29G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+29G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+29G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+29G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+29G>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg187Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

19-3054089-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054089
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054089
    reference: chr 19
allele count: 13439
allele frequency: 5.13252367858234e-1
allele num: 26184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.558G>A
  hgvsp: ENSP00000466038.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2093G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-633G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 559
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 7.5e0
  variant carriers: 7085
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 2.25e1
  variant carriers: 1140
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 1.75e1
  variant carriers: 2897
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.5e0
  variant carriers: 1195
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.75e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 4.25e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 1.25e1
  variant carriers: 5988
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 403
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 4.75e1
  variant carriers: 848
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 6194
  bin: 2.5e0
  variant carriers: 1291
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 6.25e1
  variant carriers: 489
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.75e1
  variant carriers: 1110
hgvs: p.Arg187Gln
num of homozygotes: 3863
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-3054090-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054090
    reference: chr 19
allele count: 3880
allele frequency: 1.407326804497642e-1
allele num: 27570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+28C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2092C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.557C>G
  hgvsp: ENSP00000466038.1:p.Arg187Gly
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-634C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+28C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+28C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+28C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+28C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+28C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 2.5e0
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 7339
  bin: 1.25e1
  variant carriers: 527
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.25e1
  variant carriers: 575
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 459
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.25e1
  variant carriers: 589
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.75e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.75e1
  variant carriers: 625
genotype depth: GenotypeDepth
  all individuals: 13119
  bin: 7.5e0
  variant carriers: 409
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 13581
  bin: 7.5e0
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 6.75e1
  variant carriers: 44
hgvs: p.Arg187Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-3054094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054094
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054094
    reference: chr 19
allele count: 3806
allele frequency: 1.299419597132127e-1
allele num: 29290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.553T>G
  hgvsp: ENST00000586742.1:c.553T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+24T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-638T>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2088T>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 1.75e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17809
  bin: 2.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16757
  bin: 7.5e0
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 1.25e1
  variant carriers: 357
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 2.25e1
  variant carriers: 487
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 8.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 17489
  bin: 7.5e0
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 1.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 39
hgvs: p.Gly185Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-3054096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054096
    reference: chr 19
allele count: 1
allele frequency: 2.335030121888572e-5
allele num: 42826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2086G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+22G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.551G>A
  hgvsp: ENSP00000466038.1:p.Gly185Ser
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+22G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+22G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+22G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+22G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-640G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+22G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Gly185Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-3054097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054097
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054097
    reference: chr 19
allele count: 3
allele frequency: 6.9322488215177e-5
allele num: 43276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2085G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.550G>A
  hgvsp: ENST00000586742.1:c.550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-641G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+21G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3544
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala184Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

19-3054098-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054098
    reference: chr 19
allele count: 3419
allele frequency: 1.108625162127108e-1
allele num: 30840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-642C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+20C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+20C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+20C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2084C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+20C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+20C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.549C>G
  hgvsp: ENSP00000466038.1:p.Ala184Gly
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+20C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 317
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 1.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 7.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 491
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 493
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 6.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 15089
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 14
hgvs: p.Ala184Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-3054098-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054098
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054098
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 30840
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2084C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.549C>A
  hgvsp: ENSP00000466038.1:p.Ala184Glu
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+20C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-642C>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19735
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15089
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala184Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-3054101-CAGGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054101
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054097
    reference: chr 19
allele count: 153
allele frequency: 3.097793075521361e-3
allele num: 49390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+13_253+16delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2077_2080delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+13_372+16delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+13_608+16delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-649_225-646delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.542_545delACCT
  hgvsp: ENSP00000466038.1:p.Thr182GlyfsTer95
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+13_204+16delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+13_573+16delACCT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+13_*116+16delACCT
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 10143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 9.75e1
  variant carriers: 152
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr182GlyfsTer95
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: CAGGT
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-3054103-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054103
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054103
    reference: chr 19
allele count: 1
allele frequency: 1.987834453146742e-5
allele num: 50306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+15C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+15C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-647C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+15C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.544C>G
  hgvsp: ENST00000586742.1:c.544C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2079C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+15C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+15C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+15C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr182Thr
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

19-3054104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054104
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054104
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 51726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.543C>T
  hgvsp: ENSP00000466038.1:p.Thr182Ile
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2078C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-648C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+14C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25103
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr182Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

19-3054105-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054106
    reference: chr 19
allele count: 3
allele frequency: 5.810125111360732e-5
allele num: 51634
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+12dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.541dupG
  hgvsp: ENSP00000466038.1:p.Thr182AspfsTer15
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+12dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+12dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+12dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2076dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-650dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+12dupG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+12dupG
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Thr182AspfsTer15
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-3054107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054107
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054107
    reference: chr 19
allele count: 1
allele frequency: 1.831770222743259e-5
allele num: 54592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2075G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+11G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.540G>A
  hgvsp: ENSP00000466038.1:p.Gly181Glu
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-651G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly181Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-3054108-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054108
    reference: chr 19
allele count: 1
allele frequency: 1.804077214504781e-5
allele num: 55430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+10G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2074G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-652G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.539G>T
  hgvsp: ENSP00000466038.1:p.Gly181Trp
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+10G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+10G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+10G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+10G>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+10G>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly181Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-3054109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054109
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054109
    reference: chr 19
allele count: 3
allele frequency: 5.333902282910177e-5
allele num: 56244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2073G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.538G>C
  hgvsp: ENSP00000466038.1:p.Met180Ile
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+9G>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-653G>C
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26182
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met180Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-3054114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054114
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054114
    reference: chr 19
allele count: 2
allele frequency: 3.249179582155506e-5
allele num: 61554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2068T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372+4T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.533T>C
  hgvsp: ENSP00000466038.1:p.Cys179Arg
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573+4T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204+4T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-658T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116+4T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253+4T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608+4T>C
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25550
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys179Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-3054118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054118
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054118
    reference: chr 19
allele count: 4
allele frequency: 6.088465402295351e-5
allele num: 65698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*116A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.372A>G
  hgvsp: ENST00000327141.4:c.372A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.608A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.529A>G
  hgvsp: ENST00000586742.1:c.529A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-662A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2064A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.204A>G
  hgvsp: ENST00000586839.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.573A>G
  hgvsp: ENST00000221561.8:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.253A>G
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24501
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
hgvs: c.573A>G
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

19-3054124-GAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054124
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054122
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 73384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*108_*109delAT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.521_522delAT
  hgvsp: ENSP00000466038.1:p.Ile175HisfsTer21
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-670_225-669delAT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.196_197delAT
  hgvsp: ENSP00000467831.1:p.Ile66HisfsTer64
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.600_601delAT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.565_566delAT
  hgvsp: ENSP00000221561.7:p.Ile189HisfsTer64
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2056_2057delAT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.245_246delAT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.364_365delAT
  hgvsp: ENSP00000317537.3:p.Ile122HisfsTer64
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21509
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile189HisfsTer64
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: GAT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-3054139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054139
    reference: chr 19
allele count: 22
allele frequency: 2.410589060308555e-4
allele num: 91264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2043C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.552C>T
  hgvsp: ENST00000221561.8:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.183C>T
  hgvsp: ENST00000586839.1:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.508C>T
  hgvsp: ENST00000586742.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.587C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.351C>T
  hgvsp: ENST00000327141.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-683C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.232C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32044
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5554
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro184Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-3054144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054144
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054144
    reference: chr 19
allele count: 2
allele frequency: 2.091350175673415e-5
allele num: 95632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.503G>A
  hgvsp: ENSP00000466038.1:p.Ala169Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-688G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.582G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.346G>A
  hgvsp: ENSP00000317537.3:p.Ala116Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2038G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.227G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.178G>A
  hgvsp: ENSP00000467831.1:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.547G>A
  hgvsp: ENSP00000221561.7:p.Ala183Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11724
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33869
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ala183Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-3054145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054145
    reference: chr 19
allele count: 3
allele frequency: 3.09834135459484e-5
allele num: 96826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.546C>T
  hgvsp: ENST00000221561.8:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.177C>T
  hgvsp: ENST00000586839.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.502C>T
  hgvsp: ENST00000586742.1:c.502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-689C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.226C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.345C>T
  hgvsp: ENST00000327141.4:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.581C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2037C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34409
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr182Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-3054167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054167
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054167
    reference: chr 19
allele count: 1
allele frequency: 9.881032370262045e-6
allele num: 101204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.559T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2015T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.323T>C
  hgvsp: ENSP00000317537.3:p.Ile108Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*67T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.155T>C
  hgvsp: ENSP00000467831.1:p.Ile52Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-711T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.480T>C
  hgvsp: ENSP00000466038.1:p.Ile161Thr
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.457T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.204T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.524T>C
  hgvsp: ENSP00000221561.7:p.Ile175Thr
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile175Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-3054169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054169
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054169
    reference: chr 19
allele count: 34
allele frequency: 3.361610409127761e-4
allele num: 101142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.455C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.478C>T
  hgvsp: ENST00000586742.1:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.522C>T
  hgvsp: ENST00000221561.8:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.321C>T
  hgvsp: ENST00000327141.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.153C>T
  hgvsp: ENST00000586839.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-713C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2013C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.557C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.202C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31182
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala174Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-3054177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054177
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054177
    reference: chr 19
allele count: 9
allele frequency: 8.96200111527125e-5
allele num: 100424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.447T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-721T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.145T>C
  hgvsp: ENST00000586839.1:c.145T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.194T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.2005T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*57T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.313T>C
  hgvsp: ENST00000327141.4:c.313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.514T>C
  hgvsp: ENST00000221561.8:c.514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.470T>C
  hgvsp: ENST00000586742.1:c.470T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.549T>C
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29730
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu172Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-3054190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054190
    reference: chr 19
allele count: 1
allele frequency: 1.011551922960206e-5
allele num: 98858
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.501C>T
  hgvsp: ENST00000221561.8:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.536C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1992C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-734C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.434C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.300C>T
  hgvsp: ENST00000327141.4:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.132C>T
  hgvsp: ENST00000586839.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.457C>T
  hgvsp: ENST00000586742.1:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.181C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.501C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-3054194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054194
    reference: chr 19
allele count: 1
allele frequency: 1.018620380556574e-5
allele num: 98172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1988A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-738A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-2A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-2A>G
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
hgvs: c.499-2A>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-3054196-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054196
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054196
    reference: chr 19
allele count: 4974
allele frequency: 5.057653590384967e-2
allele num: 98346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1986C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-740C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-4C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-4C>G
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9894
  bin: 7.5e0
  variant carriers: 308
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 22703
  bin: 2.25e1
  variant carriers: 740
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 1.25e1
  variant carriers: 739
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.75e1
  variant carriers: 514
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 1.75e1
  variant carriers: 885
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 44
hgvs: c.499-4C>G
num of homozygotes: 220
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-3054200-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054200
    reference: chr 19
allele count: 1
allele frequency: 1.039241769205188e-5
allele num: 96224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-8C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-744C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1982C>G
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
hgvs: c.499-8C>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-3054200-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054200
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054200
    reference: chr 19
allele count: 1
allele frequency: 1.039241769205188e-5
allele num: 96224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-744C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-8C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1982C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-8C>A
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19905
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
hgvs: c.499-8C>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-3054201-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054201
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054201
    reference: chr 19
allele count: 1
allele frequency: 1.039047401342449e-5
allele num: 96242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-745C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1981C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-9C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-9C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-3054205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054205
    reference: chr 19
allele count: 2
allele frequency: 2.108414682999852e-5
allele num: 94858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1977G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-749G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-13G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-13G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-3054205-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054205
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054204
    reference: chr 19
allele count: 2
allele frequency: 2.108414682999852e-5
allele num: 94858
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1976delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-750delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-14delC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-14delC
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17416
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: CG
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-3054206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054206
    reference: chr 19
allele count: 6
allele frequency: 6.354720498210087e-5
allele num: 94418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1976C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-750C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-14C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-3054212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054212
    reference: chr 19
allele count: 1
allele frequency: 1.073168637719731e-5
allele num: 93182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1970C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-20C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-756C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-20C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

19-3054217-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054217
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054217
    reference: chr 19
allele count: 1
allele frequency: 1.087145590537485e-5
allele num: 91984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-761C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1965C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-25C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-25C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

19-3054219-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054219
    reference: chr 19
allele count: 1
allele frequency: 1.09217999126256e-5
allele num: 91560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1963C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-27C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-763C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-27C>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6512
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-3054221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054221
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054221
    reference: chr 19
allele count: 4
allele frequency: 4.401892813909981e-5
allele num: 90870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1961G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-765G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-29G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-29G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6446
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-3054225-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054225
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054225
    reference: chr 19
allele count: 1
allele frequency: 1.126633618747183e-5
allele num: 88760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1957C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-769C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-33C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-33C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19362
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-3054227-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054227
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054227
    reference: chr 19
allele count: 1
allele frequency: 1.123595505617978e-5
allele num: 89000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1955A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-771A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-35A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-35A>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

19-3054233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054233
    reference: chr 19
allele count: 4
allele frequency: 4.618404341300081e-5
allele num: 86610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-777G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-41G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1949G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-41G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11162
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18740
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

19-3054241-GGGAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3054241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3054236
    reference: chr 19
allele count: 6
allele frequency: 7.187350263536177e-5
allele num: 83480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.534-54_534-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.432-54_432-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.455-54_455-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.298-54_298-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.179-54_179-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*42-54_*42-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.1936_1940delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.499-54_499-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.130-54_130-50delTCTCC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.225-790_225-786delTCTCC
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: GGGAGA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-3055618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055618
    reference: chr 19
allele count: 1
allele frequency: 8.98811770838951e-6
allele num: 111258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+692A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.564A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+44A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+44A>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

19-3055620-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055620
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055621
    reference: chr 19
allele count: 23
allele frequency: 2.062151451575304e-4
allele num: 111534
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.561dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+689dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+41dupC
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+41dupC
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-3055620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055620
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055620
    reference: chr 19
allele count: 1
allele frequency: 8.965875876414367e-6
allele num: 111534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+690G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.562G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+42G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+42G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-3055621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055621
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055621
    reference: chr 19
allele count: 2
allele frequency: 1.789420943382721e-5
allele num: 111768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+689C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.561C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+41C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+41C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-3055624-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055624
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055623
    reference: chr 19
allele count: 2
allele frequency: 1.784025832694057e-5
allele num: 112106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+685delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.557delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+37delG
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+37delG
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: GC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

19-3055630-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055630
    reference: chr 19
allele count: 1
allele frequency: 8.892683100345036e-6
allele num: 112452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.552A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+32A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+680A>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+32A>C
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

19-3055635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055635
    reference: chr 19
allele count: 1
allele frequency: 8.864305215757189e-6
allele num: 112812
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+675T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.547T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+27T>C
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+27T>C
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-3055637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055637
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055637
    reference: chr 19
allele count: 7
allele frequency: 6.198200750867748e-5
allele num: 112936
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+673G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+25G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.545G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-3055641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055641
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055641
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 113220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.541G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+669G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+21G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-3055648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055648
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055648
    reference: chr 19
allele count: 4
allele frequency: 3.513518261511164e-5
allele num: 113846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.534C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+662C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+14C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+14C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

19-3055655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055655
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055655
    reference: chr 19
allele count: 5
allele frequency: 4.371699366977932e-5
allele num: 114372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.527G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.178+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.533+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+655G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.431+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.129+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.297+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.498+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.454+7G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*41+7G>A
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 8.25e1
  variant carriers: 0
hgvs: c.498+7G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-3055665-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055665
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055665
    reference: chr 19
allele count: 1
allele frequency: 8.686135191008112e-6
allele num: 115126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.530A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.294A>G
  hgvsp: ENST00000327141.4:c.294A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.495A>G
  hgvsp: ENST00000221561.8:c.495A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.126A>G
  hgvsp: ENST00000586839.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.451A>G
  hgvsp: ENST00000586742.1:c.451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.517A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.428A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.175A>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+645A>G
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln165Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-3055671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055671
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055671
    reference: chr 19
allele count: 1
allele frequency: 8.637667138859137e-6
allele num: 115772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.288C>T
  hgvsp: ENST00000327141.4:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.120C>T
  hgvsp: ENST00000586839.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.489C>T
  hgvsp: ENST00000221561.8:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.169C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.422C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+639C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.445C>T
  hgvsp: ENST00000586742.1:c.445C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.511C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.524C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu163Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-3055701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055701
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055701
    reference: chr 19
allele count: 34
allele frequency: 2.904493422176662e-4
allele num: 117060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.415C>T
  hgvsp: ENST00000586742.1:c.415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.392C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.90C>T
  hgvsp: ENST00000586839.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.494C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.459C>T
  hgvsp: ENST00000221561.8:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.258C>T
  hgvsp: ENST00000327141.4:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.481C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+609C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.139C>T
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn153Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

19-3055716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055716
    reference: chr 19
allele count: 7
allele frequency: 5.992740223272378e-5
allele num: 116808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.444C>T
  hgvsp: ENST00000221561.8:c.444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.479C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.377C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.75C>T
  hgvsp: ENST00000586839.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.400C>T
  hgvsp: ENST00000586742.1:c.400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.243C>T
  hgvsp: ENST00000327141.4:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.466C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.134C>T
  hgvsp: ENSP00000466179.1:p.Ser45Leu
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.124C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+594C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser45Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-3055729-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055729
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055727
    reference: chr 19
allele count: 1
allele frequency: 8.593723144615173e-6
allele num: 116364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-7_369-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-7_126-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-7_67-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-7_116-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-7_436-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-7_392-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-7_458-6delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+579_224+580delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.464_465delGT
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-7_235-6delGT
  variant of: http://identifiers.org/hgnc/307
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
hgvs: c.436-7_436-6delGT
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: AAC
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-3055733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055733
    reference: chr 19
allele count: 2
allele frequency: 1.722682561284432e-5
allele num: 116098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.462G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+577G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-9G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-9G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-3055745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055745
    reference: chr 19
allele count: 3
allele frequency: 2.602856200871089e-5
allele num: 115258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.450G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-21G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+565G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-21G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8456
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

19-3055746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055746
    reference: chr 19
allele count: 1
allele frequency: 8.677542519958348e-6
allele num: 115240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+564C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.449C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-22C>T
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-22C>T
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-3055746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055746
    reference: chr 19
allele count: 1
allele frequency: 8.677542519958348e-6
allele num: 115240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.449C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-22C>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+564C>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-3055758-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055758
    reference: chr 19
allele count: 1
allele frequency: 8.769468219447172e-6
allele num: 114032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.437C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+552C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-34C>G
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-34C>G
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

19-3055761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3055761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 3055761
    reference: chr 19
allele count: 7
allele frequency: 6.169575180680416e-5
allele num: 113460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000317537
  ensembl transcript: ENST00000327141
  gene symbol: AES
  hgvsc: ENST00000327141.4:c.235-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592330
  gene symbol: AES
  hgvsc: ENST00000592330.1:n.224+549G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000221561
  ensembl transcript: ENST00000221561
  gene symbol: AES
  hgvsc: ENST00000221561.8:c.436-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587393
  gene symbol: AES
  hgvsc: ENST00000587393.1:n.116-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000587083
  gene symbol: AES
  hgvsc: ENST00000587083.1:n.369-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466038
  ensembl transcript: ENST00000586742
  gene symbol: AES
  hgvsc: ENST00000586742.1:c.392-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000466179
  ensembl transcript: ENST00000585557
  gene symbol: AES
  hgvsc: ENST00000585557.1:c.126-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000590067
  gene symbol: AES
  hgvsc: ENST00000590067.1:n.434G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl transcript: ENST00000592414
  gene symbol: AES
  hgvsc: ENST00000592414.1:n.458-37G>A
  variant of: http://identifiers.org/hgnc/307
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104964
  ensembl protein: ENSP00000467831
  ensembl transcript: ENST00000586839
  gene symbol: AES
  hgvsc: ENST00000586839.1:c.67-37G>A
  variant of: http://identifiers.org/hgnc/307
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C

GenotypeQuality
all individuals: 1838
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1853
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11476
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1158
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.854949273375377e-5
allele num: 14588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.375209380234506e-4
allele num: 1194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 2.826e1

DP
type: SiteQuality
SIO_000300: 4.5335e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.53e-2

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22143
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.539e0

VQSLOD
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.45e-2

FS
type: SiteQuality
SIO_000300: 1.871e0

DP
type: SiteQuality
SIO_000300: 4.48819e5

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

GenotypeQuality
all individuals: 1619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19037
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.48228e5

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.044e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.26e-2

GenotypeQuality
all individuals: 333
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15897
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4738
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1764
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.338e1

DP
type: SiteQuality
SIO_000300: 4.77437e5

FS
type: SiteQuality
SIO_000300: 3.8504e2

MQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.323e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.42e-2

GenotypeQuality
all individuals: 7541
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10725
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7455
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.126117341134406e-5
allele num: 12306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.117e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.485e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

DP
type: SiteQuality
SIO_000300: 4.78874e5

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12267
bin: 7.5e0
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2341
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
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: 13660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 4.8925e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 2.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.27e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6194
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1054
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

DP
type: SiteQuality
SIO_000300: 5.38907e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 2.638e1

VQSLOD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.842e-1

FS
type: SiteQuality
SIO_000300: 1.2598e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 320
bin: 7.75e1
variant carriers: 308

GenotypeQuality
all individuals: 1775
bin: 3.25e1
variant carriers: 1391

GenotypeQuality
all individuals: 2641
bin: 1.75e1
variant carriers: 2252

GenotypeQuality
all individuals: 4226
bin: 2.25e1
variant carriers: 2010

GenotypeQuality
all individuals: 732
bin: 5.25e1
variant carriers: 713

GenotypeQuality
all individuals: 2680
bin: 1.25e1
variant carriers: 1876

GenotypeQuality
all individuals: 447
bin: 6.75e1
variant carriers: 418

GenotypeQuality
all individuals: 458
bin: 5.75e1
variant carriers: 457

GenotypeQuality
all individuals: 13126
bin: 7.5e0
variant carriers: 1739

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 248

GenotypeQuality
all individuals: 1337
bin: 3.75e1
variant carriers: 1147

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 161

GenotypeQuality
all individuals: 2803
bin: 9.75e1
variant carriers: 2794

GenotypeQuality
all individuals: 344
bin: 7.25e1
variant carriers: 333

GenotypeQuality
all individuals: 906
bin: 4.25e1
variant carriers: 850

South Asian
type: Population
allele count: 1906
allele frequency: 2.788180222352253e-1
allele num: 6836
num of homozygotes: 340

Latino
type: Population
allele count: 816
allele frequency: 6.163141993957704e-1
allele num: 1324
num of homozygotes: 241

European (Non-Finnish)
type: Population
allele count: 8680
allele frequency: 6.092083099382369e-1
allele num: 14248
num of homozygotes: 2643

East Asian
type: Population
allele count: 804
allele frequency: 5.303430079155673e-1
allele num: 1516
num of homozygotes: 230

Other
type: Population
allele count: 87
allele frequency: 4.438775510204082e-1
allele num: 196
num of homozygotes: 25

European (Finnish)
type: Population
allele count: 802
allele frequency: 7.940594059405941e-1
allele num: 1010
num of homozygotes: 301

African
type: Population
allele count: 344
allele frequency: 3.263757115749525e-1
allele num: 1054
num of homozygotes: 83

VQSLOD
type: SiteQuality
SIO_000300: 8.390000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.38907e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.842e-1

FS
type: SiteQuality
SIO_000300: 1.2598e1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.638e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 3162
bin: 1.75e1
variant carriers: 62

GenotypeQuality
all individuals: 2136
bin: 3.25e1
variant carriers: 62

GenotypeQuality
all individuals: 4113
bin: 2.25e1
variant carriers: 78

GenotypeQuality
all individuals: 1427
bin: 3.75e1
variant carriers: 51

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 50

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 44

GenotypeQuality
all individuals: 721
bin: 6.25e1
variant carriers: 48

GenotypeQuality
all individuals: 9613
bin: 2.5e0
variant carriers: 60

GenotypeQuality
all individuals: 121
bin: 7.75e1
variant carriers: 42

GenotypeQuality
all individuals: 1811
bin: 2.75e1
variant carriers: 65

GenotypeQuality
all individuals: 3665
bin: 9.75e1
variant carriers: 3493

GenotypeQuality
all individuals: 637
bin: 4.25e1
variant carriers: 42

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 40

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 47

GenotypeQuality
all individuals: 107
bin: 8.25e1
variant carriers: 49

East Asian
type: Population
allele count: 137
allele frequency: 8.145065398335315e-2
allele num: 1682
num of homozygotes: 0

South Asian
type: Population
allele count: 2060
allele frequency: 3.607705779334501e-1
allele num: 5710
num of homozygotes: 0

African
type: Population
allele count: 198
allele frequency: 1.622950819672131e-1
allele num: 1220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1322
allele frequency: 8.308195072900955e-2
allele num: 15912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 5.216095380029807e-3
allele num: 1342
num of homozygotes: 0

Other
type: Population
allele count: 41
allele frequency: 1.798245614035088e-1
allele num: 228
num of homozygotes: 0

Latino
type: Population
allele count: 115
allele frequency: 7.791327913279132e-2
allele num: 1476
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.44974e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.734e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -5.006e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.268e-1

FS
type: SiteQuality
SIO_000300: 1.09607e2

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 5.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.883e0

GenotypeQuality
all individuals: 2195
bin: 3.25e1
variant carriers: 45

GenotypeQuality
all individuals: 658
bin: 4.75e1
variant carriers: 37

GenotypeQuality
all individuals: 3579
bin: 9.75e1
variant carriers: 3419

GenotypeQuality
all individuals: 274
bin: 6.75e1
variant carriers: 39

GenotypeQuality
all individuals: 102
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 8472
bin: 2.25e1
variant carriers: 41

GenotypeQuality
all individuals: 1389
bin: 3.75e1
variant carriers: 33

GenotypeQuality
all individuals: 12084
bin: 2.5e0
variant carriers: 20

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 42

GenotypeQuality
all individuals: 125
bin: 7.25e1
variant carriers: 33

GenotypeQuality
all individuals: 2330
bin: 1.25e1
variant carriers: 30

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 31

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 43

GenotypeQuality
all individuals: 1350
bin: 6.25e1
variant carriers: 38

GenotypeQuality
all individuals: 615
bin: 4.25e1
variant carriers: 25

Other
type: Population
allele count: 41
allele frequency: 1.722689075630252e-1
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 6.493506493506494e-3
allele num: 1386
num of homozygotes: 0

East Asian
type: Population
allele count: 132
allele frequency: 7.07395498392283e-2
allele num: 1866
num of homozygotes: 0

African
type: Population
allele count: 192
allele frequency: 1.354019746121298e-1
allele num: 1418
num of homozygotes: 0

Latino
type: Population
allele count: 109
allele frequency: 6.745049504950495e-2
allele num: 1616
num of homozygotes: 0

South Asian
type: Population
allele count: 2010
allele frequency: 3.571428571428572e-1
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1313
allele frequency: 7.661337378924028e-2
allele num: 17138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.022e0

DP
type: SiteQuality
SIO_000300: 6.24609e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

FS
type: SiteQuality
SIO_000300: 8.145999999999999e1

MQ
type: SiteQuality
SIO_000300: 5.327e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.661e0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 18670
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12955
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3426
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2428
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.093852548676438e-4
allele num: 9142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23884
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

DP
type: SiteQuality
SIO_000300: 6.58978e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.935e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 2.955e1

GenotypeQuality
all individuals: 14416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 958
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3040
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18208
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.312335958005249e-3
allele num: 2286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

FS
type: SiteQuality
SIO_000300: 4.742e0

VQSLOD
type: SiteQuality
SIO_000300: -3.297e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.68703e5

QD
type: SiteQuality
SIO_000300: 3.222e1

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 32

GenotypeQuality
all individuals: 322
bin: 6.75e1
variant carriers: 19

GenotypeQuality
all individuals: 13434
bin: 2.25e1
variant carriers: 20

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1625
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 96
bin: 7.75e1
variant carriers: 15

GenotypeQuality
all individuals: 265
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 2382
bin: 3.25e1
variant carriers: 22

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 33

GenotypeQuality
all individuals: 12258
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 28

GenotypeQuality
all individuals: 488
bin: 4.75e1
variant carriers: 24

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 3341
bin: 9.75e1
variant carriers: 3172

GenotypeQuality
all individuals: 2416
bin: 2.75e1
variant carriers: 17

East Asian
type: Population
allele count: 98
allele frequency: 4.588014981273408e-2
allele num: 2136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 4.037685060565276e-3
allele num: 1486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1160
allele frequency: 6.443012663852478e-2
allele num: 18004
num of homozygotes: 0

South Asian
type: Population
allele count: 1863
allele frequency: 3.356756756756757e-1
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 93
allele frequency: 5.201342281879195e-2
allele num: 1788
num of homozygotes: 0

African
type: Population
allele count: 162
allele frequency: 9.878048780487805e-2
allele num: 1640
num of homozygotes: 0

Other
type: Population
allele count: 37
allele frequency: 1.567796610169492e-1
allele num: 236
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.295e0

QD
type: SiteQuality
SIO_000300: 9.67e0

FS
type: SiteQuality
SIO_000300: 6.224e1

MQ
type: SiteQuality
SIO_000300: 5.39e1

VQSLOD
type: SiteQuality
SIO_000300: -2.26e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -2.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

DP
type: SiteQuality
SIO_000300: 6.8743e5

GenotypeQuality
all individuals: 2382
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13434
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variant carriers: 0

GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 12258
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GenotypeQuality
all individuals: 1404
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.8743e5

FS
type: SiteQuality
SIO_000300: 6.224e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

MQRankSum
type: SiteQuality
SIO_000300: -2.616e0

MQ
type: SiteQuality
SIO_000300: 5.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.295e0

QD
type: SiteQuality
SIO_000300: 9.67e0

GenotypeQuality
all individuals: 11295
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5537
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variant carriers: 0

GenotypeQuality
all individuals: 834
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variant carriers: 0

GenotypeQuality
all individuals: 3764
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variant carriers: 1

GenotypeQuality
all individuals: 2251
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 233
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GenotypeQuality
all individuals: 1482
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variant carriers: 0

GenotypeQuality
all individuals: 543
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variant carriers: 0

GenotypeQuality
all individuals: 765
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variant carriers: 0

GenotypeQuality
all individuals: 596
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variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 108
allele frequency: 1.136124552913949e-2
allele num: 9506
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 9.933774834437086e-4
allele num: 3020
num of homozygotes: 0

East Asian
type: Population
allele count: 22
allele frequency: 5.923532579429187e-3
allele num: 3714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2032
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.36986301369863e-3
allele num: 2920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 5.751671579552807e-4
allele num: 27818
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.451e0

MQ
type: SiteQuality
SIO_000300: 5.289e1

FS
type: SiteQuality
SIO_000300: 6.545999999999999e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.725e0

VQSLOD
type: SiteQuality
SIO_000300: -9.108000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.571e0

QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
SIO_000300: 7.62656e5

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
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variant carriers: 0

GenotypeQuality
all individuals: 2222
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variant carriers: 0

GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 808
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variant carriers: 0

GenotypeQuality
all individuals: 23827
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 595
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variant carriers: 0

GenotypeQuality
all individuals: 504
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variant carriers: 0

GenotypeQuality
all individuals: 389
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variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.084128360797918e-4
allele num: 9224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.675e0

MQRankSum
type: SiteQuality
SIO_000300: -1.289e0

DP
type: SiteQuality
SIO_000300: 7.46548e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.518e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 3.004e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 2.3302e1

GenotypeQuality
all individuals: 8271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 340
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 723
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variant carriers: 0

GenotypeQuality
all individuals: 7438
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variant carriers: 0

GenotypeQuality
all individuals: 950
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 24744
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GenotypeQuality
all individuals: 693
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variant carriers: 0

GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 429
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GenotypeQuality
all individuals: 716
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variant carriers: 0

GenotypeQuality
all individuals: 3772
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variant carriers: 0

GenotypeQuality
all individuals: 3747
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variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.91e-1

FS
type: SiteQuality
SIO_000300: 4.43e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 7.59485e5

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 469
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 2.5e0
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GenotypeQuality
all individuals: 3609
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variant carriers: 0

GenotypeQuality
all individuals: 757
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GenotypeQuality
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GenotypeQuality
all individuals: 1129
bin: 1.75e1
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GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 1424
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GenotypeQuality
all individuals: 7486
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variant carriers: 0

GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 1427
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1067
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29332
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.202391118701964e-4
allele num: 9368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3958
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

FS
type: SiteQuality
SIO_000300: 3.827e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 7.71418e5

GenotypeQuality
all individuals: 720
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 584
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GenotypeQuality
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GenotypeQuality
all individuals: 3579
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GenotypeQuality
all individuals: 3559
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
all individuals: 270
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GenotypeQuality
all individuals: 1576
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.378686964795433e-4
allele num: 4204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30940
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.06295e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

GenotypeQuality
all individuals: 607
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
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GenotypeQuality
all individuals: 5826
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GenotypeQuality
all individuals: 291
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GenotypeQuality
all individuals: 561
bin: 1.75e1
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GenotypeQuality
all individuals: 1864
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variant carriers: 0

GenotypeQuality
all individuals: 586
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GenotypeQuality
all individuals: 25999
bin: 2.25e1
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GenotypeQuality
all individuals: 1751
bin: 6.75e1
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GenotypeQuality
all individuals: 718
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GenotypeQuality
all individuals: 448
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GenotypeQuality
all individuals: 720
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GenotypeQuality
all individuals: 608
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GenotypeQuality
all individuals: 575
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.345215759849906e-4
allele num: 4264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

DP
type: SiteQuality
SIO_000300: 8.18754e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.51e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeQuality
all individuals: 5385
bin: 7.5e0
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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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 4348
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.383797309978104e-5
allele num: 31970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.429e-1

FS
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SIO_000300: 1.614e0

BaseQRankSum
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SIO_000300: -1.804e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
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SIO_000300: 8.30238e5

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

QD
type: SiteQuality
SIO_000300: 1.777e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 2.105263157894737e-4
allele num: 4750
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.836718484057642e-5
allele num: 35252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.259e-1

DP
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SIO_000300: 8.91172e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-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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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 7.836990595611285e-4
allele num: 5104
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2878
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37766
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
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SIO_000300: 9.36525e5

InbreedingCoeff
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SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 4.975e0

VQSLOD
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5016
num of homozygotes: 0

African
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: 520
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

FS
type: SiteQuality
SIO_000300: 3.522e0

MQ
type: SiteQuality
SIO_000300: 6.119e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
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SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.010454e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.41282848262221e-4
allele num: 7078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6894
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Latino
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allele count: 2
allele frequency: 2.621231979030144e-4
allele num: 7630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.414652653943924e-4
allele num: 52714
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.644736842105263e-3
allele num: 608
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.170233e6

FS
type: SiteQuality
SIO_000300: 3.793e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

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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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.629237134354359e-5
allele num: 55108
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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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.592083048960092e-5
allele num: 55678
num of homozygotes: 0

East Asian
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allele frequency: 1.375137513751375e-4
allele num: 7272
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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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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Other
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allele num: 700
num of homozygotes: 0

South Asian
type: Population
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African
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Latino
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East Asian
type: Population
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European (Non-Finnish)
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European (Finnish)
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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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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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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GenotypeQuality
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GenotypeQuality
all individuals: 34532
bin: 6.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.271186440677966e-3
allele num: 4720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 4.328404723155234e-4
allele num: 57758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.322766570605188e-3
allele num: 694
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 8.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

FS
type: SiteQuality
SIO_000300: 1.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 1.238486e6

GenotypeQuality
all individuals: 784
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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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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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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variant carriers: 9

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8964
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.249063202598052e-4
allele num: 8006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.715660298424209e-5
allele num: 57368
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.276176024279211e-4
allele num: 13180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 1.745e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.216752e6

QD
type: SiteQuality
SIO_000300: 1.038e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

GenotypeQuality
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bin: 7.5e0
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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 474
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77072635194957e-5
allele num: 56474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13086
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.183588e6

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.423e0

VQSLOD
type: SiteQuality
SIO_000300: -2.617e0

QD
type: SiteQuality
SIO_000300: 5.14e0

GenotypeQuality
all individuals: 274
bin: 1.25e1
variant carriers: 1

GenotypeQuality
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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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variant carriers: 0

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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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
all individuals: 646
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GenotypeQuality
all individuals: 27319
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.783230500374478e-5
allele num: 56078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7432
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

FS
type: SiteQuality
SIO_000300: 9.023e0

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.165474e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2417
bin: 3.25e1
variant carriers: 31

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 78

GenotypeQuality
all individuals: 569
bin: 5.75e1
variant carriers: 34

GenotypeQuality
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bin: 4.25e1
variant carriers: 30

GenotypeQuality
all individuals: 1139
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variant carriers: 27

GenotypeQuality
all individuals: 5633
bin: 9.75e1
variant carriers: 4354

GenotypeQuality
all individuals: 1046
bin: 7.5e0
variant carriers: 7

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 50

GenotypeQuality
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bin: 1.75e1
variant carriers: 25

GenotypeQuality
all individuals: 256
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variant carriers: 13

GenotypeQuality
all individuals: 14319
bin: 2.25e1
variant carriers: 32

GenotypeQuality
all individuals: 732
bin: 7.75e1
variant carriers: 47

GenotypeQuality
all individuals: 427
bin: 2.5e0
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GenotypeQuality
all individuals: 2525
bin: 6.75e1
variant carriers: 50

GenotypeQuality
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variant carriers: 93

GenotypeQuality
all individuals: 577
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variant carriers: 59

GenotypeQuality
all individuals: 25095
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variant carriers: 51

GenotypeQuality
all individuals: 2354
bin: 2.75e1
variant carriers: 25

GenotypeQuality
all individuals: 813
bin: 7.25e1
variant carriers: 38

European (Non-Finnish)
type: Population
allele count: 837
allele frequency: 1.497959768057842e-2
allele num: 55876
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 187
allele frequency: 4.155555555555555e-2
allele num: 4500
num of homozygotes: 2

Latino
type: Population
allele count: 168
allele frequency: 1.972757162987318e-2
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 970
allele frequency: 1.207368683096838e-1
allele num: 8034
num of homozygotes: 45

East Asian
type: Population
allele count: 1065
allele frequency: 1.422655623831151e-1
allele num: 7486
num of homozygotes: 57

Other
type: Population
allele count: 24
allele frequency: 3.560830860534125e-2
allele num: 674
num of homozygotes: 1

South Asian
type: Population
allele count: 1723
allele frequency: 1.299396681749623e-1
allele num: 13260
num of homozygotes: 109

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 1.232017e6

FS
type: SiteQuality
SIO_000300: 1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.65e-2

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeQuality
all individuals: 1810
bin: 9.75e1
variant carriers: 1

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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GenotypeQuality
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GenotypeQuality
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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
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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: 594
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variant carriers: 0

GenotypeQuality
all individuals: 23758
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.209774981853375e-4
allele num: 8266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55154
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.907e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

VQSLOD
type: SiteQuality
SIO_000300: -2.514e0

DP
type: SiteQuality
SIO_000300: 1.126546e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 5.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 486
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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 6.75e1
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GenotypeQuality
all individuals: 1810
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.81310512383508e-5
allele num: 55154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12840
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

VQSLOD
type: SiteQuality
SIO_000300: -2.514e0

DP
type: SiteQuality
SIO_000300: 1.126546e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 2.907e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

GenotypeQuality
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bin: 6.25e1
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
all individuals: 833
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GenotypeQuality
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GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7194
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.784524365561264e-5
allele num: 12846
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.867e0

DP
type: SiteQuality
SIO_000300: 1.126201e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 3.038e1

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1883
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.672285263119239e-5
allele num: 54462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.25e0

DP
type: SiteQuality
SIO_000300: 1.09172e6

FS
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 535
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4018
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 506
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.672285263119239e-5
allele num: 54462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

DP
type: SiteQuality
SIO_000300: 1.09172e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.25e0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 749
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variant carriers: 0

GenotypeQuality
all individuals: 18202
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variant carriers: 0

GenotypeQuality
all individuals: 3806
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variant carriers: 0

GenotypeQuality
all individuals: 20325
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variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 4.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.106970222501015e-4
allele num: 54202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

DP
type: SiteQuality
SIO_000300: 1.08419e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
all individuals: 19128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
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variant carriers: 0

GenotypeQuality
all individuals: 16905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4521
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variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.86720442154007e-5
allele num: 53556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.469e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

FS
type: SiteQuality
SIO_000300: 4.312e0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 1.037225e6

GenotypeQuality
all individuals: 1909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5919
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
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variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14011
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variant carriers: 0

GenotypeQuality
all individuals: 358
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variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4941
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 859
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variant carriers: 0

GenotypeQuality
all individuals: 19190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.88821752265861e-5
allele num: 52960
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.898e0

DP
type: SiteQuality
SIO_000300: 1.004518e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

QD
type: SiteQuality
SIO_000300: 4.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 958
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
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variant carriers: 0

GenotypeQuality
all individuals: 13050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.895734597156398e-5
allele num: 52750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 4.821e0

QD
type: SiteQuality
SIO_000300: 8.09e0

MQRankSum
type: SiteQuality
SIO_000300: 5.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

DP
type: SiteQuality
SIO_000300: 9.93129e5

GenotypeQuality
all individuals: 19059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 3654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
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variant carriers: 0

GenotypeQuality
all individuals: 5205
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
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variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 5.470459518599562e-4
allele num: 7312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52376
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 3.492e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.829e0

DP
type: SiteQuality
SIO_000300: 9.82603e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

QD
type: SiteQuality
SIO_000300: 1.176e1

GenotypeQuality
all individuals: 1562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7292
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.5e0
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GenotypeQuality
all individuals: 5445
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17563
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7945
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.401738155312588e-4
allele num: 7134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.765e1

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.4807e5

GenotypeQuality
all individuals: 3182
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7314
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5456
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 654
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7162
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.370989854675075e-4
allele num: 7294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

FS
type: SiteQuality
SIO_000300: 2.172e0

VQSLOD
type: SiteQuality
SIO_000300: -9.847e-1

DP
type: SiteQuality
SIO_000300: 9.46817e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.195e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 460
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5436
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.964954201513341e-5
allele num: 50220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 5.003e0

DP
type: SiteQuality
SIO_000300: 9.27591e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
type: SiteQuality
SIO_000300: 1.796e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -5.364e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 2608
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5361
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1813
bin: 9.75e1
variant carriers: 11

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14464
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6778
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48452
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 9.216589861751152e-4
allele num: 6510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

FS
type: SiteQuality
SIO_000300: 6.283e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 5.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 9.13974e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.537e0

QD
type: SiteQuality
SIO_000300: 1.04e1

GenotypeQuality
all individuals: 3106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 658
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variant carriers: 0

GenotypeQuality
all individuals: 3104
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variant carriers: 0

GenotypeQuality
all individuals: 686
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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: 2980
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variant carriers: 0

GenotypeQuality
all individuals: 2052
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variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2011
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variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597239969332993e-5
allele num: 62608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.079e1

DP
type: SiteQuality
SIO_000300: 2.261205e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2063
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 985
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3103
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28343
bin: 9.75e1
variant carriers: 21

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 1107
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variant carriers: 0

GenotypeQuality
all individuals: 5357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.964066133605173e-5
allele num: 62782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.462491397109429e-3
allele num: 11624
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

DP
type: SiteQuality
SIO_000300: 2.266448e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.037e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

GenotypeQuality
all individuals: 3121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 985
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variant carriers: 0

GenotypeQuality
all individuals: 28343
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169590643274854e-4
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

QD
type: SiteQuality
SIO_000300: 1.185e1

MQ
type: SiteQuality
SIO_000300: 6.037e1

DP
type: SiteQuality
SIO_000300: 2.266448e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 1269
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 205
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3291
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variant carriers: 0

GenotypeQuality
all individuals: 5882
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.014816318246397e-4
allele num: 9854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590077913817777e-5
allele num: 62890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.27262e6

QD
type: SiteQuality
SIO_000300: 1.681e1

FS
type: SiteQuality
SIO_000300: 2.903e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 354
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.748251748251748e-4
allele num: 11440
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 6.045e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 2.279485e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 2.036e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

GenotypeQuality
all individuals: 1006
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.393486654356219e-5
allele num: 11914
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 2.477e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.291891e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2188
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variant carriers: 0

GenotypeQuality
all individuals: 3610
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577486118122161e-5
allele num: 63392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 2.299404e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

FS
type: SiteQuality
SIO_000300: 1.831e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

GenotypeQuality
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
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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: 7

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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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 137
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variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.823627287853577e-4
allele num: 12020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.802e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 2.302686e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

GenotypeQuality
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

DP
type: SiteQuality
SIO_000300: 2.307863e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.087e0

QD
type: SiteQuality
SIO_000300: 3.83e0

GenotypeQuality
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bin: 7.75e1
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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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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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: 9.75e1
variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.947108742845866e-4
allele num: 10134
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63878
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 1.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.115e0

DP
type: SiteQuality
SIO_000300: 2.316919e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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: 5
allele frequency: 3.978990927900684e-4
allele num: 12566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64076
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

DP
type: SiteQuality
SIO_000300: 2.325558e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.1e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.94e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554098156839586e-5
allele num: 64346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

DP
type: SiteQuality
SIO_000300: 2.336171e6

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.266e0

GenotypeQuality
all individuals: 37
bin: 1.25e1
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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bin: 2.75e1
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3236
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548706829797119e-5
allele num: 64570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 2.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.096e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

DP
type: SiteQuality
SIO_000300: 2.344533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 2390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28469
bin: 9.75e1
variant carriers: 34

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.75e1
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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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.076757421935087e-4
allele num: 65010
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.23431124927142e-3
allele num: 10294
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 2.360985e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10583
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 7
allele frequency: 6.801399144966964e-4
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 2.353824e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542686125080991e-5
allele num: 64822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.053e1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

FS
type: SiteQuality
SIO_000300: 6.091e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 2.344649e6

GenotypeQuality
all individuals: 3173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13456
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.227e0

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 6.402e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.339769e6

GenotypeQuality
all individuals: 540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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: 1.550868486352357e-5
allele num: 64480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.711289327575571e-5
allele num: 12968
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 2.323619e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
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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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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12948
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 2.32322e6

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 1.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.439e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 1.75e1
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: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

South Asian
type: Population
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: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.16e-1

DP
type: SiteQuality
SIO_000300: 2.32322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

FS
type: SiteQuality
SIO_000300: 1.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
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SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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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
all individuals: 90
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560549313358302e-5
allele num: 64080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.777e0

VQSLOD
type: SiteQuality
SIO_000300: -3.951e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.305583e6

QD
type: SiteQuality
SIO_000300: 3.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 2.835e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.085e0

GenotypeQuality
all individuals: 1082
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28458
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3173
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3155
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.388202159286497e-5
allele num: 63910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0