14-64619248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619248
    reference: chr 14
allele count: 1
allele frequency: 8.497909514259493e-6
allele num: 117676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15391-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15640-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5542-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4795-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4795-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15640-34G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67478C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67478C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.526-34G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

14-64619266-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619266
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619266
    reference: chr 14
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15640-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5542-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4795-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4795-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15640-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67496G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15391-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.526-16C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67496G>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

14-64619278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619278
    reference: chr 14
allele count: 2
allele frequency: 1.668919708272835e-5
allele num: 119838
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67508G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15391-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.526-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4795-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67508G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5542-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15640-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15640-4C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4795-4C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
hgvs: c.15640-4C>T
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-64619282-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619282
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619282
    reference: chr 14
allele count: 1
allele frequency: 8.328475056217207e-6
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67512C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4795G>C
  hgvsp: ENSP00000378249.2:p.Asp1599His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15391G>C
  hgvsp: ENSP00000452570.1:p.Asp5131His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4795G>C
  hgvsp: ENSP00000349969.3:p.Asp1599His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.526G>C
  hgvsp: ENSP00000451972.1:p.Asp176His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15640G>C
  hgvsp: ENSP00000350719.3:p.Asp5214His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5542G>C
  hgvsp: ENSP00000450831.1:p.Asp1848His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15640G>C
  hgvsp: ENSP00000341781.4:p.Asp5214His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67512C>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp5214His
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-64619294-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619294
    reference: chr 14
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15652C>A
  hgvsp: ENSP00000341781.4:p.Gln5218Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4807C>A
  hgvsp: ENSP00000378249.2:p.Gln1603Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67524G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5554C>A
  hgvsp: ENSP00000450831.1:p.Gln1852Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4807C>A
  hgvsp: ENSP00000349969.3:p.Gln1603Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15652C>A
  hgvsp: ENSP00000350719.3:p.Gln5218Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.538C>A
  hgvsp: ENSP00000451972.1:p.Gln180Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15403C>A
  hgvsp: ENSP00000452570.1:p.Gln5135Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67524G>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln5218Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

14-64619309-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619309
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619309
    reference: chr 14
allele count: 7
allele frequency: 5.797293492123963e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5569T>A
  hgvsp: ENSP00000450831.1:p.Ser1857Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15418T>A
  hgvsp: ENSP00000452570.1:p.Ser5140Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.553T>A
  hgvsp: ENSP00000451972.1:p.Ser185Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4822T>A
  hgvsp: ENSP00000378249.2:p.Ser1608Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15667T>A
  hgvsp: ENSP00000350719.3:p.Ser5223Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4822T>A
  hgvsp: ENSP00000349969.3:p.Ser1608Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67539A>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15667T>A
  hgvsp: ENSP00000341781.4:p.Ser5223Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67539A>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14131
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser5223Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-64619317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619317
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619317
    reference: chr 14
allele count: 4
allele frequency: 3.309395373465268e-5
allele num: 120868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.561A>G
  hgvsp: ENST00000555612.1:c.561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15426A>G
  hgvsp: ENST00000554584.1:c.15426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67547T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15675A>G
  hgvsp: ENST00000344113.4:c.15675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4830A>G
  hgvsp: ENST00000357395.3:c.4830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5577A>G
  hgvsp: ENST00000555002.1:c.5577A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15675A>G
  hgvsp: ENST00000358025.3:c.15675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4830A>G
  hgvsp: ENST00000394768.2:c.4830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67547T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14254
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala5225Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

14-64619320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619320
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619320
    reference: chr 14
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.564A>G
  hgvsp: ENST00000555612.1:c.564A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67550T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15429A>G
  hgvsp: ENST00000554584.1:c.15429A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5580A>G
  hgvsp: ENST00000555002.1:c.5580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4833A>G
  hgvsp: ENST00000357395.3:c.4833A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15678A>G
  hgvsp: ENST00000358025.3:c.15678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4833A>G
  hgvsp: ENST00000394768.2:c.4833A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67550T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15678A>G
  hgvsp: ENST00000344113.4:c.15678A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu5226Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-64619325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619325
    reference: chr 14
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15683A>G
  hgvsp: ENSP00000341781.4:p.Glu5228Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5585A>G
  hgvsp: ENSP00000450831.1:p.Glu1862Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15683A>G
  hgvsp: ENSP00000350719.3:p.Glu5228Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67555T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4838A>G
  hgvsp: ENSP00000378249.2:p.Glu1613Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.569A>G
  hgvsp: ENSP00000451972.1:p.Glu190Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67555T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15434A>G
  hgvsp: ENSP00000452570.1:p.Glu5145Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4838A>G
  hgvsp: ENSP00000349969.3:p.Glu1613Gly
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu5228Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

14-64619331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619331
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619331
    reference: chr 14
allele count: 29
allele frequency: 2.397328219033133e-4
allele num: 120968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15440A>G
  hgvsp: ENSP00000452570.1:p.Lys5147Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4844A>G
  hgvsp: ENSP00000378249.2:p.Lys1615Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15689A>G
  hgvsp: ENSP00000350719.3:p.Lys5230Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67561T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4844A>G
  hgvsp: ENSP00000349969.3:p.Lys1615Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67561T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.575A>G
  hgvsp: ENSP00000451972.1:p.Lys192Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5591A>G
  hgvsp: ENSP00000450831.1:p.Lys1864Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15689A>G
  hgvsp: ENSP00000341781.4:p.Lys5230Arg
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys5230Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-64619341-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619341
    reference: chr 14
allele count: 2
allele frequency: 1.653083827880912e-5
allele num: 120986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15450T>C
  hgvsp: ENST00000554584.1:c.15450T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67571A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5601T>C
  hgvsp: ENST00000555002.1:c.5601T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15699T>C
  hgvsp: ENST00000344113.4:c.15699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4854T>C
  hgvsp: ENST00000394768.2:c.4854T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67571A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15699T>C
  hgvsp: ENST00000358025.3:c.15699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4854T>C
  hgvsp: ENST00000357395.3:c.4854T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.585T>C
  hgvsp: ENST00000555612.1:c.585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr5233Tyr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

14-64619353-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619353
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619353
    reference: chr 14
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15462G>C
  hgvsp: ENSP00000452570.1:p.Glu5154Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.597G>C
  hgvsp: ENSP00000451972.1:p.Glu199Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67583C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15711G>C
  hgvsp: ENSP00000350719.3:p.Glu5237Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4866G>C
  hgvsp: ENSP00000378249.2:p.Glu1622Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5613G>C
  hgvsp: ENSP00000450831.1:p.Glu1871Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4866G>C
  hgvsp: ENSP00000349969.3:p.Glu1622Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67583C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15711G>C
  hgvsp: ENSP00000341781.4:p.Glu5237Asp
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu5237Asp
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ

14-64619359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619359
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619359
    reference: chr 14
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4872G>C
  hgvsp: ENST00000394768.2:c.4872G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67589C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15717G>C
  hgvsp: ENST00000358025.3:c.15717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5619G>C
  hgvsp: ENST00000555002.1:c.5619G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4872G>C
  hgvsp: ENST00000357395.3:c.4872G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67589C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.603G>C
  hgvsp: ENST00000555612.1:c.603G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15468G>C
  hgvsp: ENST00000554584.1:c.15468G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15717G>C
  hgvsp: ENST00000344113.4:c.15717G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly5239Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

14-64619361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619361
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619361
    reference: chr 14
allele count: 8
allele frequency: 6.608839322593969e-5
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15470C>T
  hgvsp: ENSP00000452570.1:p.Ala5157Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15719C>T
  hgvsp: ENSP00000341781.4:p.Ala5240Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67591G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.605C>T
  hgvsp: ENSP00000451972.1:p.Ala202Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67591G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4874C>T
  hgvsp: ENSP00000349969.3:p.Ala1625Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5621C>T
  hgvsp: ENSP00000450831.1:p.Ala1874Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15719C>T
  hgvsp: ENSP00000350719.3:p.Ala5240Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4874C>T
  hgvsp: ENSP00000378249.2:p.Ala1625Val
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala5240Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/14-64619362-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619362
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619362
    reference: chr 14
allele count: 21
allele frequency: 1.734791659782573e-4
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67592T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15471A>C
  hgvsp: ENST00000554584.1:c.15471A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5622A>C
  hgvsp: ENST00000555002.1:c.5622A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.606A>C
  hgvsp: ENST00000555612.1:c.606A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4875A>C
  hgvsp: ENST00000357395.3:c.4875A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4875A>C
  hgvsp: ENST00000394768.2:c.4875A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15720A>C
  hgvsp: ENST00000358025.3:c.15720A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15720A>C
  hgvsp: ENST00000344113.4:c.15720A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67592T>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala5240Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

14-64619362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619362
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619362
    reference: chr 14
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67592T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15720A>G
  hgvsp: ENST00000344113.4:c.15720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4875A>G
  hgvsp: ENST00000394768.2:c.4875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.606A>G
  hgvsp: ENST00000555612.1:c.606A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5622A>G
  hgvsp: ENST00000555002.1:c.5622A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67592T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4875A>G
  hgvsp: ENST00000357395.3:c.4875A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15720A>G
  hgvsp: ENST00000358025.3:c.15720A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15471A>G
  hgvsp: ENST00000554584.1:c.15471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala5240Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

14-64619372-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619372
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619372
    reference: chr 14
allele count: 3
allele frequency: 2.477987213585978e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.616T>G
  hgvsp: ENSP00000451972.1:p.Leu206Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15730T>G
  hgvsp: ENSP00000341781.4:p.Leu5244Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5632T>G
  hgvsp: ENSP00000450831.1:p.Leu1878Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15730T>G
  hgvsp: ENSP00000350719.3:p.Leu5244Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4885T>G
  hgvsp: ENSP00000378249.2:p.Leu1629Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67602A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15481T>G
  hgvsp: ENSP00000452570.1:p.Leu5161Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4885T>G
  hgvsp: ENSP00000349969.3:p.Leu1629Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67602A>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu5244Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

14-64619387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619387
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619387
    reference: chr 14
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15496T>C
  hgvsp: ENSP00000452570.1:p.Ser5166Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5647T>C
  hgvsp: ENSP00000450831.1:p.Ser1883Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15745T>C
  hgvsp: ENSP00000350719.3:p.Ser5249Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67617A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4900T>C
  hgvsp: ENSP00000378249.2:p.Ser1634Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15745T>C
  hgvsp: ENSP00000341781.4:p.Ser5249Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67617A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.631T>C
  hgvsp: ENSP00000451972.1:p.Ser211Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4900T>C
  hgvsp: ENSP00000349969.3:p.Ser1634Pro
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser5249Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

14-64619391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619391
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619391
    reference: chr 14
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67621C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4904G>A
  hgvsp: ENSP00000349969.3:p.Arg1635Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15500G>A
  hgvsp: ENSP00000452570.1:p.Arg5167Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.635G>A
  hgvsp: ENSP00000451972.1:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15749G>A
  hgvsp: ENSP00000341781.4:p.Arg5250Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5651G>A
  hgvsp: ENSP00000450831.1:p.Arg1884Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67621C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4904G>A
  hgvsp: ENSP00000378249.2:p.Arg1635Gln
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15749G>A
  hgvsp: ENSP00000350719.3:p.Arg5250Gln
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3858
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg5250Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

14-64619395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619395
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619395
    reference: chr 14
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4908T>C
  hgvsp: ENST00000357395.3:c.4908T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67625A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15753T>C
  hgvsp: ENST00000344113.4:c.15753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15753T>C
  hgvsp: ENST00000358025.3:c.15753T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67625A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5655T>C
  hgvsp: ENST00000555002.1:c.5655T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15504T>C
  hgvsp: ENST00000554584.1:c.15504T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.639T>C
  hgvsp: ENST00000555612.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4908T>C
  hgvsp: ENST00000394768.2:c.4908T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile5251Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-64619410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619410
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619410
    reference: chr 14
allele count: 3
allele frequency: 2.480609899287238e-5
allele num: 120938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.654A>G
  hgvsp: ENST00000555612.1:c.654A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15519A>G
  hgvsp: ENST00000554584.1:c.15519A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5670A>G
  hgvsp: ENST00000555002.1:c.5670A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4923A>G
  hgvsp: ENST00000394768.2:c.4923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15768A>G
  hgvsp: ENST00000358025.3:c.15768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67640T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67640T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15768A>G
  hgvsp: ENST00000344113.4:c.15768A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4923A>G
  hgvsp: ENST00000357395.3:c.4923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln5256Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

14-64619420-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619420
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619420
    reference: chr 14
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15529A>G
  hgvsp: ENSP00000452570.1:p.Ser5177Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67650T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15778A>G
  hgvsp: ENSP00000341781.4:p.Ser5260Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4933A>G
  hgvsp: ENSP00000378249.2:p.Ser1645Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15778A>G
  hgvsp: ENSP00000350719.3:p.Ser5260Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.664A>G
  hgvsp: ENSP00000451972.1:p.Ser222Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5680A>G
  hgvsp: ENSP00000450831.1:p.Ser1894Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4933A>G
  hgvsp: ENSP00000349969.3:p.Ser1645Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67650T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser5260Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-64619423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619423
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619423
    reference: chr 14
allele count: 93
allele frequency: 7.694853549561476e-4
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15532G>A
  hgvsp: ENSP00000452570.1:p.Val5178Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4936G>A
  hgvsp: ENSP00000378249.2:p.Val1646Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67653C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4936G>A
  hgvsp: ENSP00000349969.3:p.Val1646Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67653C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15781G>A
  hgvsp: ENSP00000350719.3:p.Val5261Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5683G>A
  hgvsp: ENSP00000450831.1:p.Val1895Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.667G>A
  hgvsp: ENSP00000451972.1:p.Val223Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15781G>A
  hgvsp: ENSP00000341781.4:p.Val5261Ile
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val5261Ile
num of homozygotes: 1
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-64619426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619426
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619426
    reference: chr 14
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.670C>T
  hgvsp: ENSP00000451972.1:p.Leu224Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15784C>T
  hgvsp: ENSP00000350719.3:p.Leu5262Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5686C>T
  hgvsp: ENSP00000450831.1:p.Leu1896Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67656G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15784C>T
  hgvsp: ENSP00000341781.4:p.Leu5262Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15535C>T
  hgvsp: ENSP00000452570.1:p.Leu5179Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4939C>T
  hgvsp: ENSP00000349969.3:p.Leu1647Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4939C>T
  hgvsp: ENSP00000378249.2:p.Leu1647Phe
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67656G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu5262Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/14-64619429-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619429
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619429
    reference: chr 14
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67659T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15787A>C
  hgvsp: ENSP00000350719.3:p.Thr5263Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4942A>C
  hgvsp: ENSP00000378249.2:p.Thr1648Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5689A>C
  hgvsp: ENSP00000450831.1:p.Thr1897Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.673A>C
  hgvsp: ENSP00000451972.1:p.Thr225Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15787A>C
  hgvsp: ENSP00000341781.4:p.Thr5263Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4942A>C
  hgvsp: ENSP00000349969.3:p.Thr1648Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15538A>C
  hgvsp: ENSP00000452570.1:p.Thr5180Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67659T>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr5263Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

14-64619429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619429
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619429
    reference: chr 14
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15538A>G
  hgvsp: ENSP00000452570.1:p.Thr5180Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67659T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.673A>G
  hgvsp: ENSP00000451972.1:p.Thr225Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67659T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4942A>G
  hgvsp: ENSP00000349969.3:p.Thr1648Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15787A>G
  hgvsp: ENSP00000350719.3:p.Thr5263Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15787A>G
  hgvsp: ENSP00000341781.4:p.Thr5263Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5689A>G
  hgvsp: ENSP00000450831.1:p.Thr1897Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4942A>G
  hgvsp: ENSP00000378249.2:p.Thr1648Ala
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr5263Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-64619430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619430
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619430
    reference: chr 14
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15539C>T
  hgvsp: ENSP00000452570.1:p.Thr5180Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4943C>T
  hgvsp: ENSP00000349969.3:p.Thr1648Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5690C>T
  hgvsp: ENSP00000450831.1:p.Thr1897Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15788C>T
  hgvsp: ENSP00000350719.3:p.Thr5263Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15788C>T
  hgvsp: ENSP00000341781.4:p.Thr5263Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4943C>T
  hgvsp: ENSP00000378249.2:p.Thr1648Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.674C>T
  hgvsp: ENSP00000451972.1:p.Thr225Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67660G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67660G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr5263Ile
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

14-64619434-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619434
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619434
    reference: chr 14
allele count: 3
allele frequency: 2.483937206067431e-5
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678G>C
  hgvsp: ENSP00000451972.1:p.Gln226His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694G>C
  hgvsp: ENSP00000450831.1:p.Gln1898His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792G>C
  hgvsp: ENSP00000341781.4:p.Gln5264His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947G>C
  hgvsp: ENSP00000349969.3:p.Gln1649His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543G>C
  hgvsp: ENSP00000452570.1:p.Gln5181His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67664C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947G>C
  hgvsp: ENSP00000378249.2:p.Gln1649His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792G>C
  hgvsp: ENSP00000350719.3:p.Gln5264His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67664C>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln5264His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

14-64619437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619437
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619437
    reference: chr 14
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67667T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+3A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67667T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: c.15792+3A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-64619445-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619445
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619445
    reference: chr 14
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67675A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67675A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+11T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+11T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-64619453-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619453
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619453
    reference: chr 14
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67683T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67683T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+19A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+19A>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

14-64619456-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619456
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619456
    reference: chr 14
allele count: 4
allele frequency: 3.316969616558312e-5
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67686C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67686C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+22G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+22G>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

14-64619461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619461
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619461
    reference: chr 14
allele count: 4
allele frequency: 3.318400530944085e-5
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67691T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67691T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+27A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8717
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

14-64619467-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619467
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619467
    reference: chr 14
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67697G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67697G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+33C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+33C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

14-64619472-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619472
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619472
    reference: chr 14
allele count: 5
allele frequency: 4.153513872736335e-5
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67702G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+38C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67702G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+38C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24958
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8716
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

14-64619476-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619476
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619476
    reference: chr 14
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67706A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+42T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67706A>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-64619478-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619478
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619478
    reference: chr 14
allele count: 7
allele frequency: 5.819076595673932e-5
allele num: 120294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67708G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+44C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67708G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+44C>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-64619483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619483
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619483
    reference: chr 14
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67713T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67713T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+49A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+49A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8713
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

14-64619485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64619485
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64619485
    reference: chr 14
allele count: 11
allele frequency: 9.163459455857117e-5
allele num: 120042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4947+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-67715G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-67715G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4947+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5694+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15792+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.678+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15543+51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15792+51C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7819
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

14-64625292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625292
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625292
    reference: chr 14
allele count: 1
allele frequency: 8.371142995864656e-6
allele num: 119458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73522G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-51C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73522G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 5.75e1
  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: C
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

14-64625294-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625294
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625294
    reference: chr 14
allele count: 1
allele frequency: 8.355754608198667e-6
allele num: 119678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73524A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-49T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73524A>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-130271768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271768
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271768
    reference: chr 11
allele count: 9
allele frequency: 6.331785563528915e-4
allele num: 14214
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1584
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 8
  allele frequency: 1.049868766404199e-3
  allele num: 7620
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 184
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.785714285714286e-3
  allele num: 560
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-130271789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271789
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271789
    reference: chr 11
allele count: 2
allele frequency: 1.407261469180974e-4
allele num: 14212
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 5.154639175257732e-4
  allele num: 3880
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7620
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1582
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

14-64625323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625323
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625323
    reference: chr 14
allele count: 2
allele frequency: 1.661019201381968e-5
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73553G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73553G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-20C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-20C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29527
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7418
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

14-64625324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625324
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625324
    reference: chr 14
allele count: 1757
allele frequency: 1.458212299775915e-2
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73554C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73554C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-19G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-19G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 22264
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 16231
  bin: 2.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 3.25e1
  variant carriers: 131
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 151
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-64625325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625325
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625325
    reference: chr 14
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73555A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-18T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73555A>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-64625337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625337
    reference: chr 14
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15544-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.679-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4948-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73567C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5695-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4948-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73567C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15793-6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15793-6G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: c.15793-6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-64625344-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625344
    reference: chr 14
allele count: 1624
allele frequency: 1.342459412095361e-2
allele num: 120972
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73574A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5696T>C
  hgvsp: ENSP00000450831.1:p.Val1899Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73574A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4949T>C
  hgvsp: ENSP00000378249.2:p.Val1650Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15794T>C
  hgvsp: ENSP00000341781.4:p.Val5265Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15794T>C
  hgvsp: ENSP00000350719.3:p.Val5265Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.680T>C
  hgvsp: ENSP00000451972.1:p.Val227Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15545T>C
  hgvsp: ENSP00000452570.1:p.Val5182Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4949T>C
  hgvsp: ENSP00000349969.3:p.Val1650Ala
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 21976
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
hgvs: p.Val5265Ala
num of homozygotes: 19
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

14-64625353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625353
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625353
    reference: chr 14
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4958T>C
  hgvsp: ENSP00000349969.3:p.Leu1653Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5705T>C
  hgvsp: ENSP00000450831.1:p.Leu1902Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73583A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15803T>C
  hgvsp: ENSP00000350719.3:p.Leu5268Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15803T>C
  hgvsp: ENSP00000341781.4:p.Leu5268Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4958T>C
  hgvsp: ENSP00000378249.2:p.Leu1653Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15554T>C
  hgvsp: ENSP00000452570.1:p.Leu5185Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.689T>C
  hgvsp: ENSP00000451972.1:p.Leu230Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73583A>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10817
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu5268Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

14-64625360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625360
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625360
    reference: chr 14
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15810C>T
  hgvsp: ENST00000358025.3:c.15810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4965C>T
  hgvsp: ENST00000394768.2:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15810C>T
  hgvsp: ENST00000344113.4:c.15810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73590G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5712C>T
  hgvsp: ENST00000555002.1:c.5712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73590G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.696C>T
  hgvsp: ENST00000555612.1:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15561C>T
  hgvsp: ENST00000554584.1:c.15561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4965C>T
  hgvsp: ENST00000357395.3:c.4965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr5270Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/14-64625367-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64625367
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64625367
    reference: chr 14
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.5719C>A
  hgvsp: ENSP00000450831.1:p.Gln1907Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.703C>A
  hgvsp: ENSP00000451972.1:p.Gln235Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*1-73597G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.15817C>A
  hgvsp: ENSP00000341781.4:p.Gln5273Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.15817C>A
  hgvsp: ENSP00000350719.3:p.Gln5273Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.4972C>A
  hgvsp: ENSP00000349969.3:p.Gln1658Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.15568C>A
  hgvsp: ENSP00000452570.1:p.Gln5190Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.4972C>A
  hgvsp: ENSP00000378249.2:p.Gln1658Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1407-73597G>T
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30556
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln5273Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-130271793-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271793
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271793
    reference: chr 11
allele count: 7
allele frequency: 4.926108374384236e-4
allele num: 14210
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1580
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 184
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 9.186351706036745e-4
  allele num: 7620
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

11-130271809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271809
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271809
    reference: chr 11
allele count: 6
allele frequency: 4.233102864399605e-4
allele num: 14174
alternate allele: G
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 2
  allele frequency: 1.290322580645161e-3
  allele num: 1550
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 1.031991744066047e-3
  allele num: 3876
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7620
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-130271810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271810
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271810
    reference: chr 11
allele count: 1
allele frequency: 7.066139061616732e-5
allele num: 14152
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1532
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3872
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

11-130271817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271817
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271817
    reference: chr 11
allele count: 1
allele frequency: 7.077140835102619e-5
allele num: 14130
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3870
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1512
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-130271852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271852
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271852
    reference: chr 11
allele count: 1
allele frequency: 7.201497911565606e-5
allele num: 13886
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1308
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 560
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-130271864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271864
    reference: chr 11
allele count: 3
allele frequency: 2.178016552925802e-4
allele num: 13774
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 564
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 170
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 8.278145695364238e-4
  allele num: 1208
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

11-130271865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271865
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271865
    reference: chr 11
allele count: 22
allele frequency: 1.596285009432593e-3
allele num: 13782
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.76678445229682e-3
  allele num: 566
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 11
  allele frequency: 2.873563218390805e-3
  allele num: 3828
  num of homozygotes: 1
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-130271876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271876
    reference: chr 11
allele count: 1
allele frequency: 7.346459006758743e-5
allele num: 13612
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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genotype depth: GenotypeDepth
  all individuals: 447
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 908
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4347
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 280
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3804
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 162
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1072
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 568
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-130271899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271899
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271899
    reference: chr 11
allele count: 1
allele frequency: 7.612667478684531e-5
allele num: 13136
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 139
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genotype depth: GenotypeDepth
  all individuals: 8
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2388
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genotype depth: GenotypeDepth
  all individuals: 57
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genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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genotype depth: GenotypeDepth
  all individuals: 877
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 265
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 148
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.773049645390071e-3
  allele num: 564
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3726
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-130271905-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271905
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271905
    reference: chr 11
allele count: 26
allele frequency: 2.011449791118676e-3
allele num: 12926
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 1
  allele frequency: 5.319148936170213e-3
  allele num: 188
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 670
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 142
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 25
  allele frequency: 3.334222459322486e-3
  allele num: 7498
  num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-130271906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271906
    reference: chr 11
allele count: 1517
allele frequency: 1.174694130401115e-1
allele num: 12914
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.5e0
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.75e1
  variant carriers: 1405
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 3
num of homozygotes: 89
population: European (Finnish)
  type: Population
  allele count: 53
  allele frequency: 7.981927710843373e-2
  allele num: 664
  num of homozygotes: 2
population: Other
  type: Population
  allele count: 12
  allele frequency: 8.450704225352113e-2
  allele num: 142
  num of homozygotes: 1
population: Latino
  type: Population
  allele count: 17
  allele frequency: 9.042553191489362e-2
  allele num: 188
  num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 35
  allele frequency: 1.767676767676768e-1
  allele num: 198
  num of homozygotes: 3
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-130271916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271916
    reference: chr 11
allele count: 18
allele frequency: 1.460801817886707e-3
allele num: 12322
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.852253280091272e-4
  allele num: 3506
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 17
  allele frequency: 2.31355470876429e-3
  allele num: 7348
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 186
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 562
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-130271925-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271925
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271925
    reference: chr 11
allele count: 1
allele frequency: 8.304268393954493e-5
allele num: 12042
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 198
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3428
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7256
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 128
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

11-130271940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271940
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271940
    reference: chr 11
allele count: 2
allele frequency: 1.833180568285976e-4
allele num: 10910
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 196
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.992220227408737e-4
  allele num: 6684
  num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3124
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 52
  num of homozygotes: 0
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

11-130271943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130271943
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130271943
    reference: chr 11
allele count: 1
allele frequency: 8.958967926894822e-5
allele num: 11162
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 182
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 194
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.465845793022574e-4
  allele num: 6822
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 566
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

11-130275403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275403
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275403
    reference: chr 11
allele count: 1
allele frequency: 9.289191097239253e-6
allele num: 107652
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*50G>A
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1667G>A
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
  all individuals: 295
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11430
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

11-130275404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275404
    reference: chr 11
allele count: 1
allele frequency: 9.287465636377146e-6
allele num: 107672
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*49G>A
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1666G>A
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17033
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18696
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6600
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-130275412-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275412
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275412
    reference: chr 11
allele count: 2
allele frequency: 1.856803327391563e-5
allele num: 107712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1658G>T
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*41G>T
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17033
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9214
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

11-130275412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275412
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275412
    reference: chr 11
allele count: 12
allele frequency: 1.114081996434938e-4
allele num: 107712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1658G>A
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*41G>A
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17033
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11432
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-130275413-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275413
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275413
    reference: chr 11
allele count: 1
allele frequency: 9.281948466622114e-6
allele num: 107736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1657C>A
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*40C>A
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8456
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/11-130275415-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275415
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275415
    reference: chr 11
allele count: 1
allele frequency: 9.274029009162741e-6
allele num: 107828
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*38T>G
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1655T>G
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 766
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-130275421-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130275421
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 130275421
    reference: chr 11
allele count: 1
allele frequency: 9.266809993327898e-6
allele num: 107912
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000134917
  ensembl protein: ENSP00000257359
  ensembl transcript: ENST00000257359
  gene symbol: ADAMTS8
  hgvsc: ENST00000257359.6:c.*32T>G
  variant of: http://identifiers.org/hgnc/224
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134917
  ensembl transcript: ENST00000531752
  gene symbol: ADAMTS8
  hgvsc: ENST00000531752.1:n.1649T>G
  variant of: http://identifiers.org/hgnc/224
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1579
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23606
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548227279764669e-5
allele num: 64590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.186e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.998e0

DP
type: SiteQuality
SIO_000300: 1.662945e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
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African
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allele frequency: 1.001001001001001e-4
allele num: 9990
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.86e1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.075e1

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.982160555004955e-4
allele num: 10090
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8518
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 9.885330170027679e-5
allele num: 10116
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16408
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66100
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East Asian
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
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SIO_000300: 9.210000000000001e0

InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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SIO_000300: 1.23e0

VQSLOD
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SIO_000300: -1.77e-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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.053582179409994e-4
allele num: 66440
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 1.777418e6

VQSLOD
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SIO_000300: -2.709e0

FS
type: SiteQuality
SIO_000300: 2.4497e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 4.8e-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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
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African
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.00815209216978e-5
allele num: 66486
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Other
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South Asian
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allele frequency: 1.214034235765449e-4
allele num: 16474
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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allele num: 66502
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele frequency: 5.221023320570832e-4
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East Asian
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European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.555084618390597e-4
allele num: 66534
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.830917874396135e-4
allele num: 10350
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.783539e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
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variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.562e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.783698e6

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.994e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.915e1

DP
type: SiteQuality
SIO_000300: 1.785026e6

FS
type: SiteQuality
SIO_000300: 3.691e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

GenotypeQuality
all individuals: 2942
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
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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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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.029e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.785343e6

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 2697
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7555
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GenotypeQuality
all individuals: 1657
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variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 8701
bin: 9.75e1
variant carriers: 8

Latino
type: Population
allele count: 3
allele frequency: 2.606429192006951e-4
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.826254826254826e-4
allele num: 10360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.785808e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
all individuals: 8716
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 31507
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1185
bin: 8.75e1
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GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.437891804039935e-3
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

FS
type: SiteQuality
SIO_000300: 1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.786743e6

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.133e0

DP
type: SiteQuality
SIO_000300: 1.786743e6

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2937
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506534474988734e-5
allele num: 66570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7565
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.697e1

VQSLOD
type: SiteQuality
SIO_000300: -2.182e-1

DP
type: SiteQuality
SIO_000300: 1.786492e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

GenotypeQuality
all individuals: 2944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 8.25e1
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
all individuals: 31591
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.318e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 9.943e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.786736e6

GenotypeQuality
all individuals: 10
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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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: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8701
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.786587e6

FS
type: SiteQuality
SIO_000300: 4.262e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.504e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.407e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 5.39e0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.785938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e0

QD
type: SiteQuality
SIO_000300: 1.526e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

FS
type: SiteQuality
SIO_000300: 3.024e0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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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: 12
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 8699
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variant carriers: 1

GenotypeQuality
all individuals: 1656
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.488e0

DP
type: SiteQuality
SIO_000300: 1.78516e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

GenotypeQuality
all individuals: 2941
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1653
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variant carriers: 0

GenotypeQuality
all individuals: 8770
bin: 9.75e1
variant carriers: 92

GenotypeQuality
all individuals: 1182
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 91
allele frequency: 8.826382153249273e-3
allele num: 10310
num of homozygotes: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.739432944859976e-4
allele num: 11498
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.790437e6

VQSLOD
type: SiteQuality
SIO_000300: 5.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.644e0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 7559
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 1183
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
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: -4.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.785534e6

FS
type: SiteQuality
SIO_000300: 1.236e0

VQSLOD
type: SiteQuality
SIO_000300: -6.834e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 7.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.771e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3844
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
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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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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.78503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.361e1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1183
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 7552
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.361e1

FS
type: SiteQuality
SIO_000300: 2.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.78503e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

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: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.327205026762858e-4
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.208e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.785236e6

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.293e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516983859311009e-5
allele num: 66416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
type: SiteQuality
SIO_000300: 1.784666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.017e0

FS
type: SiteQuality
SIO_000300: 8.833e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.361e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.720062208398134e-5
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.783575e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 3.271e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

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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bin: 8.75e1
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GenotypeQuality
all individuals: 8713
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.977e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.781839e6

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

QD
type: SiteQuality
SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: -1.31e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.779308e6

VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

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: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.897116134060795e-4
allele num: 10264
num of homozygotes: 0

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

South Asian
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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: 8570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.13e-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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variant carriers: 0

African
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allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.334812047630166e-4
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.666e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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QD
type: SiteQuality
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MQRankSum
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.433978337592795e-4
allele num: 16434
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.25e0

DP
type: SiteQuality
SIO_000300: 1.761614e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.98e-2

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.725e0

MQRankSum
type: SiteQuality
SIO_000300: -3.584e0

DP
type: SiteQuality
SIO_000300: 1.75587e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

FS
type: SiteQuality
SIO_000300: 2.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.68e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.070020558713267e-5
allele num: 66152
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e0

DP
type: SiteQuality
SIO_000300: 1.756681e6

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.543664616969073e-5
allele num: 66026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

DP
type: SiteQuality
SIO_000300: 1.759457e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 6.031e0

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 3748
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.624671916010499e-4
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.212488632919066e-4
allele num: 65980
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 1.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

DP
type: SiteQuality
SIO_000300: 1.767904e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.762494e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519202722411279e-5
allele num: 65824
num of homozygotes: 0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 4.277e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
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DP
type: SiteQuality
SIO_000300: 1.91423e5

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.332089552238806e-4
allele num: 8576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.856917e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29052
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1429
bin: 9.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2590
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12272
bin: 9.75e1
variant carriers: 1549

Latino
type: Population
allele count: 1730
allele frequency: 1.517543859649123e-1
allele num: 11400
num of homozygotes: 151

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164958061509786e-4
allele num: 8584
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.767208043310132e-4
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.825261620832319e-4
allele num: 16436
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.543237250554324e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.659625829812915e-4
allele num: 66280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.519e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e0

DP
type: SiteQuality
SIO_000300: 1.889914e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29824
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10837
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 4.155e0

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 1.865631e6

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7594
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 44
bin: 3.75e1
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GenotypeQuality
all individuals: 3580
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variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.25e1
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GenotypeQuality
all individuals: 1471
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
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GenotypeQuality
all individuals: 2719
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10839
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.468e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.935999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.497e0

DP
type: SiteQuality
SIO_000300: 1.873115e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.879e1

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7464
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29837
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1088
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11991
bin: 9.75e1
variant carriers: 1599

GenotypeQuality
all individuals: 1407
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 221
allele frequency: 1.340694006309148e-2
allele num: 16484
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 69
allele frequency: 1.050548112058465e-2
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 19
allele frequency: 2.106430155210643e-2
allele num: 902
num of homozygotes: 1

Latino
type: Population
allele count: 146
allele frequency: 1.272220285813872e-2
allele num: 11476
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 1142
allele frequency: 1.716570466570467e-2
allele num: 66528
num of homozygotes: 14

African
type: Population
allele count: 27
allele frequency: 2.598652550529355e-3
allele num: 10390
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.928833e6

FS
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 30524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 3.177e0

DP
type: SiteQuality
SIO_000300: 1.889343e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

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

GenotypeQuality
all individuals: 10818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3555
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

DP
type: SiteQuality
SIO_000300: 1.890154e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.214e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10815
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7721
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.890725e6

FS
type: SiteQuality
SIO_000300: 5.073e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.769e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.91961e5

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.83e-2

QD
type: SiteQuality
SIO_000300: 1.216e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 1.804e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.91322e5

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.68e-2

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 8.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.06e-1

DP
type: SiteQuality
SIO_000300: 1.90736e5

MQRankSum
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.271e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 5.494505494505495e-3
allele num: 182
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.753e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

FS
type: SiteQuality
SIO_000300: 6.278e0

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

QD
type: SiteQuality
SIO_000300: 1.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.90667e5

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

DP
type: SiteQuality
SIO_000300: 1.85481e5

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.613695765812859e-4
allele num: 3826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.597e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 6.605e0

DP
type: SiteQuality
SIO_000300: 1.83424e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

Other
type: Population
allele count: 1
allele frequency: 5.882352941176471e-3
allele num: 170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 4.125412541254125e-3
allele num: 1212
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.249343832020997e-4
allele num: 7620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.83673e5

QD
type: SiteQuality
SIO_000300: 1.359e1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.905e-1

DP
type: SiteQuality
SIO_000300: 1.80126e5

FS
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.7344e5

VQSLOD
type: SiteQuality
SIO_000300: -1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 2.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.70629e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
SIO_000300: 1.45e1

African
type: Population
allele count: 107
allele frequency: 1.890459363957597e-1
allele num: 566
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 399
allele frequency: 1.091356673960613e-1
allele num: 3656
num of homozygotes: 18

South Asian
type: Population
allele count: 894
allele frequency: 1.192e-1
allele num: 7500
num of homozygotes: 55

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.85488e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

QD
type: SiteQuality
SIO_000300: 1.578e1

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.59001e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

African
type: Population
allele count: 1
allele frequency: 1.773049645390071e-3
allele num: 564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 1.0118e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

DP
type: SiteQuality
SIO_000300: 1.43642e5

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

QD
type: SiteQuality
SIO_000300: 3.074e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.368e-1

DP
type: SiteQuality
SIO_000300: 1.21983e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3198
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.423e0

DP
type: SiteQuality
SIO_000300: 1.21833e5

MQRankSum
type: SiteQuality
SIO_000300: -1.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.621e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 1
allele frequency: 1.112099644128114e-4
allele num: 8992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

QD
type: SiteQuality
SIO_000300: 1.033e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.243532e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183151916706105e-4
allele num: 8452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 2.243702e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.302e0

QD
type: SiteQuality
SIO_000300: 1.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.643e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
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: 9014
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.213677411061477e-5
allele num: 62234
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.458e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

QD
type: SiteQuality
SIO_000300: 1.11e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

DP
type: SiteQuality
SIO_000300: 2.247657e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.301159214572983e-3
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62234
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.10938540048813e-4
allele num: 9014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.247657e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 2.458e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.083423618634886e-4
allele num: 9230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 6.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

DP
type: SiteQuality
SIO_000300: 2.248207e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.08038029386344e-4
allele num: 9256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62298
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.118e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.249731e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1