6-152725459-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725459
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725459
    reference: chr 6
allele count: 3
allele frequency: 2.479011039862498e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-528G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-10C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-10C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

6-152725462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725462
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725462
    reference: chr 6
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-525A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-13T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-13T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-152725463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725463
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725463
    reference: chr 6
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-524A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-14T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

6-152725464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725464
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725464
    reference: chr 6
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-523G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-15C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-15C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152725470-TAACTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725470
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725465
    reference: chr 6
allele count: 5152
allele frequency: 4.259822727874057e-2
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-26_6835-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-26_6942-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-26_6724-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-26_421-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-26_6745-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-26_6745-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-515_271-511delACTAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-26_6724-22delTAGTT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 356
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 6.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 4.75e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 6.25e1
  variant carriers: 413
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 2.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6992
  bin: 3.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 5.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 9.75e1
  variant carriers: 687
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 442
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3575
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28447
  bin: 9.75e1
  variant carriers: 4761
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 351
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TAACTA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

6-152725491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725491
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725491
    reference: chr 6
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-496A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-42T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP

6-152725491-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725491
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725491
    reference: chr 6
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-496A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-42T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-42T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-152725500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152725500
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152725500
    reference: chr 6
allele count: 1
allele frequency: 8.312966565248474e-6
allele num: 120294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6745-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.421-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6724-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6745-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6942-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6724-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6835-51A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000226193
  ensembl transcript: ENST00000458194
  gene symbol: RP3-398G3.5
  hgvsc: ENST00000458194.1:n.271-487T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

6-152728102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728102
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728102
    reference: chr 6
allele count: 5
allele frequency: 4.136401992091199e-5
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+47C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+47C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23132
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152728129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728129
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728129
    reference: chr 6
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+20A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6482
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152728133-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728133
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728131
    reference: chr 6
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+14_6723+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+14_6834+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+14_6744+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+14_6941+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+14_420+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+14_6744+15delGT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+14_6723+15delGT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37557
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: AAC
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

6-152728140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728140
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728140
    reference: chr 6
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+9A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+9A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2700
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

6-152728144-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728144
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728144
    reference: chr 6
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+5A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+5A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: c.6723+5A>C
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

6-152728148-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728148
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728148
    reference: chr 6
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941+1G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834+1G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.6723+1G>C
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

6-152728149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728149
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728149
    reference: chr 6
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6834G>A
  hgvsp: ENST00000341594.5:c.6834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6723G>A
  hgvsp: ENST00000367255.5:c.6723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6744G>A
  hgvsp: ENST00000423061.1:c.6744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6723G>A
  hgvsp: ENST00000265368.4:c.6723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.420G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6744G>A
  hgvsp: ENST00000448038.1:c.6744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6941G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: c.6723G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

6-152728152-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728152
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728152
    reference: chr 6
allele count: 8
allele frequency: 6.592501030078285e-5
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6938T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6741T>C
  hgvsp: ENST00000423061.1:c.6741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6720T>C
  hgvsp: ENST00000265368.4:c.6720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6741T>C
  hgvsp: ENST00000448038.1:c.6741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.417T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6720T>C
  hgvsp: ENST00000367255.5:c.6720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6831T>C
  hgvsp: ENST00000341594.5:c.6831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6488
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe2240Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-152728153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728153
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728153
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6719T>C
  hgvsp: ENSP00000265368.4:p.Phe2240Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6719T>C
  hgvsp: ENSP00000356224.5:p.Phe2240Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6937T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6740T>C
  hgvsp: ENSP00000396024.1:p.Phe2247Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6740T>C
  hgvsp: ENSP00000390975.1:p.Phe2247Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.416T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6830T>C
  hgvsp: ENSP00000341887.5:p.Phe2277Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe2240Ser
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: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

6-152728164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728164
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728164
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6708G>A
  hgvsp: ENST00000367255.5:c.6708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6729G>A
  hgvsp: ENST00000423061.1:c.6729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.405G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6729G>A
  hgvsp: ENST00000448038.1:c.6729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6708G>A
  hgvsp: ENST00000265368.4:c.6708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6819G>A
  hgvsp: ENST00000341594.5:c.6819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6926G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu2236Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

6-152728171-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728171
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728171
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.398A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6701A>G
  hgvsp: ENSP00000356224.5:p.Glu2234Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6919A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6722A>G
  hgvsp: ENSP00000396024.1:p.Glu2241Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6701A>G
  hgvsp: ENSP00000265368.4:p.Glu2234Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6812A>G
  hgvsp: ENSP00000341887.5:p.Glu2271Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6722A>G
  hgvsp: ENSP00000390975.1:p.Glu2241Gly
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7463
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu2234Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS

6-152728220-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728220
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728220
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6763C>G
  hgvsp: ENSP00000341887.5:p.Pro2255Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6673C>G
  hgvsp: ENSP00000390975.1:p.Pro2225Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6870C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6673C>G
  hgvsp: ENSP00000396024.1:p.Pro2225Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.349C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6652C>G
  hgvsp: ENSP00000265368.4:p.Pro2218Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6652C>G
  hgvsp: ENSP00000356224.5:p.Pro2218Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro2218Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

6-152728223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728223
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728223
    reference: chr 6
allele count: 10
allele frequency: 8.238589553468446e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.346G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6649G>A
  hgvsp: ENSP00000265368.4:p.Val2217Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6670G>A
  hgvsp: ENSP00000390975.1:p.Val2224Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6670G>A
  hgvsp: ENSP00000396024.1:p.Val2224Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6760G>A
  hgvsp: ENSP00000341887.5:p.Val2254Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6649G>A
  hgvsp: ENSP00000356224.5:p.Val2217Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6867G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6486
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val2217Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

6-152728224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728224
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728224
    reference: chr 6
allele count: 33
allele frequency: 2.718555376149207e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6759C>T
  hgvsp: ENST00000341594.5:c.6759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6648C>T
  hgvsp: ENST00000265368.4:c.6648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.345C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6669C>T
  hgvsp: ENST00000423061.1:c.6669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6648C>T
  hgvsp: ENST00000367255.5:c.6648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6866C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6669C>T
  hgvsp: ENST00000448038.1:c.6669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys2216Cys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

6-152728242-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728242
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728242
    reference: chr 6
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6741G>C
  hgvsp: ENSP00000341887.5:p.Glu2247Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6651G>C
  hgvsp: ENSP00000396024.1:p.Glu2217Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6630G>C
  hgvsp: ENSP00000265368.4:p.Glu2210Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6630G>C
  hgvsp: ENSP00000356224.5:p.Glu2210Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6848G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.327G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6651G>C
  hgvsp: ENSP00000390975.1:p.Glu2217Asp
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7456
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu2210Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

6-152728246-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728246
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728246
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6626T>C
  hgvsp: ENSP00000356224.5:p.Ile2209Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6647T>C
  hgvsp: ENSP00000390975.1:p.Ile2216Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.323T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6626T>C
  hgvsp: ENSP00000265368.4:p.Ile2209Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6647T>C
  hgvsp: ENSP00000396024.1:p.Ile2216Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6737T>C
  hgvsp: ENSP00000341887.5:p.Ile2246Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6844T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2209Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152728258-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728258
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728258
    reference: chr 6
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6614C>A
  hgvsp: ENSP00000356224.5:p.Thr2205Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.311C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6725C>A
  hgvsp: ENSP00000341887.5:p.Thr2242Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6832C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6635C>A
  hgvsp: ENSP00000390975.1:p.Thr2212Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6614C>A
  hgvsp: ENSP00000265368.4:p.Thr2205Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6635C>A
  hgvsp: ENSP00000396024.1:p.Thr2212Asn
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2205Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

6-152728269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728269
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728269
    reference: chr 6
allele count: 13
allele frequency: 1.071193144363876e-4
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6603T>C
  hgvsp: ENST00000367255.5:c.6603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6714T>C
  hgvsp: ENST00000341594.5:c.6714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.300T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6603T>C
  hgvsp: ENST00000265368.4:c.6603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6624T>C
  hgvsp: ENST00000423061.1:c.6624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6624T>C
  hgvsp: ENST00000448038.1:c.6624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6821T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp2201Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

6-152728275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728275
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728275
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6597G>A
  hgvsp: ENSP00000356224.5:p.Trp2199Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6708G>A
  hgvsp: ENSP00000341887.5:p.Trp2236Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6618G>A
  hgvsp: ENSP00000396024.1:p.Trp2206Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6618G>A
  hgvsp: ENSP00000390975.1:p.Trp2206Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.294G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6597G>A
  hgvsp: ENSP00000265368.4:p.Trp2199Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6815G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp2199Ter
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD

6-152728281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728281
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728281
    reference: chr 6
allele count: 4
allele frequency: 3.297609233305853e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6809C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6612C>T
  hgvsp: ENST00000423061.1:c.6612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6612C>T
  hgvsp: ENST00000448038.1:c.6612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6591C>T
  hgvsp: ENST00000367255.5:c.6591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6702C>T
  hgvsp: ENST00000341594.5:c.6702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6591C>T
  hgvsp: ENST00000265368.4:c.6591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.288C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1783
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser2197Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-152728296-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728296
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728296
    reference: chr 6
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6576G>A
  hgvsp: ENST00000367255.5:c.6576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.273G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6597G>A
  hgvsp: ENST00000423061.1:c.6597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6576G>A
  hgvsp: ENST00000265368.4:c.6576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6794G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6687G>A
  hgvsp: ENST00000341594.5:c.6687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6597G>A
  hgvsp: ENST00000448038.1:c.6597G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu2192Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-152728301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728301
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728301
    reference: chr 6
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6571A>G
  hgvsp: ENSP00000265368.4:p.Arg2191Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6571A>G
  hgvsp: ENSP00000356224.5:p.Arg2191Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.268A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6592A>G
  hgvsp: ENSP00000390975.1:p.Arg2198Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6789A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6682A>G
  hgvsp: ENSP00000341887.5:p.Arg2228Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6592A>G
  hgvsp: ENSP00000396024.1:p.Arg2198Gly
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2191Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-152728322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728322
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728322
    reference: chr 6
allele count: 3
allele frequency: 2.500291700698415e-5
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6550A>G
  hgvsp: ENSP00000356224.5:p.Lys2184Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6571A>G
  hgvsp: ENSP00000396024.1:p.Lys2191Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6661A>G
  hgvsp: ENSP00000341887.5:p.Lys2221Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6550A>G
  hgvsp: ENSP00000265368.4:p.Lys2184Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.247A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6768A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6571A>G
  hgvsp: ENSP00000390975.1:p.Lys2191Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys2184Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-152728323-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728323
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728323
    reference: chr 6
allele count: 17
allele frequency: 1.418794858955099e-4
allele num: 119820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.246G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6570G>C
  hgvsp: ENSP00000396024.1:p.Glu2190Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6549G>C
  hgvsp: ENSP00000356224.5:p.Glu2183Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6570G>C
  hgvsp: ENSP00000390975.1:p.Glu2190Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6767G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6660G>C
  hgvsp: ENSP00000341887.5:p.Glu2220Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6549G>C
  hgvsp: ENSP00000265368.4:p.Glu2183Asp
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu2183Asp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

6-152728331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728331
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728331
    reference: chr 6
allele count: 2
allele frequency: 1.676445934618609e-5
allele num: 119300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541G>A
  hgvsp: ENSP00000356224.5:p.Val2181Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541G>A
  hgvsp: ENSP00000265368.4:p.Val2181Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562G>A
  hgvsp: ENSP00000396024.1:p.Val2188Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652G>A
  hgvsp: ENSP00000341887.5:p.Val2218Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562G>A
  hgvsp: ENSP00000390975.1:p.Val2188Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2181Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-152728353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728353
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728353
    reference: chr 6
allele count: 5
allele frequency: 4.255174291938998e-5
allele num: 117504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-22A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6442
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-152728368-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728368
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728368
    reference: chr 6
allele count: 1
allele frequency: 8.620986930583814e-6
allele num: 115996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-37C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-37C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

6-152728372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728372
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728372
    reference: chr 6
allele count: 2
allele frequency: 1.73460537727667e-5
allele num: 115300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-41G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-41G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

6-152728373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728373
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728373
    reference: chr 6
allele count: 2
allele frequency: 1.743162445308278e-5
allele num: 114734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-42C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-42C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

6-152728379-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728379
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728379
    reference: chr 6
allele count: 532
allele frequency: 4.644260148406809e-3
allele num: 114550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-48A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-48A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7798
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 1.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6103
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5027
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5616
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6838
  bin: 9.75e1
  variant carriers: 500
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 13
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-152728381-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152728381
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152728381
    reference: chr 6
allele count: 5
allele frequency: 4.394368177743404e-5
allele num: 113782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6759-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6562-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6652-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6541-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6541-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6562-50T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.238-50T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14415
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12206
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6420
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 2.25e1
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

6-152730153-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730153
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730153
    reference: chr 6
allele count: 223
allele frequency: 1.839235933556571e-3
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+50C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+50C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 19277
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 8414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-152730154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730154
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730154
    reference: chr 6
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+49C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-152730163-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730163
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730163
    reference: chr 6
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+40T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+40T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-152730177-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730177
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730177
    reference: chr 6
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+26G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+26G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-152730179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730179
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730179
    reference: chr 6
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+24G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+24G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

6-152730185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730185
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730185
    reference: chr 6
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+18G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+18G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13010
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

6-152730186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730186
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730186
    reference: chr 6
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+17G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+17G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13008
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

6-152730190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730190
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730190
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+13C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+13C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

6-152730192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730192
    reference: chr 6
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540+11C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651+11C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13007
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-152730203-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730203
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730203
    reference: chr 6
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.237T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6651T>A
  hgvsp: ENSP00000341887.5:p.Asp2217Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6540T>A
  hgvsp: ENSP00000265368.4:p.Asp2180Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6561T>A
  hgvsp: ENSP00000396024.1:p.Asp2187Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6540T>A
  hgvsp: ENSP00000356224.5:p.Asp2180Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6758T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6561T>A
  hgvsp: ENSP00000390975.1:p.Asp2187Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2180Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-152730206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730206
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730206
    reference: chr 6
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.234G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6648G>A
  hgvsp: ENST00000341594.5:c.6648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6537G>A
  hgvsp: ENST00000367255.5:c.6537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6537G>A
  hgvsp: ENST00000265368.4:c.6537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6558G>A
  hgvsp: ENST00000423061.1:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6755G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6558G>A
  hgvsp: ENST00000448038.1:c.6558G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13006
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu2179Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/6-152730209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730209
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730209
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6752G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.231G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6534G>T
  hgvsp: ENSP00000265368.4:p.Trp2178Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6534G>T
  hgvsp: ENSP00000356224.5:p.Trp2178Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6645G>T
  hgvsp: ENSP00000341887.5:p.Trp2215Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6555G>T
  hgvsp: ENSP00000396024.1:p.Trp2185Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6555G>T
  hgvsp: ENSP00000390975.1:p.Trp2185Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp2178Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

6-152730217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730217
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730217
    reference: chr 6
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6744G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6526G>A
  hgvsp: ENSP00000265368.4:p.Asp2176Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6637G>A
  hgvsp: ENSP00000341887.5:p.Asp2213Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6526G>A
  hgvsp: ENSP00000356224.5:p.Asp2176Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6547G>A
  hgvsp: ENSP00000396024.1:p.Asp2183Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.223G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6547G>A
  hgvsp: ENSP00000390975.1:p.Asp2183Asn
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22906
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp2176Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152730219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730219
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730219
    reference: chr 6
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6635T>C
  hgvsp: ENSP00000341887.5:p.Val2212Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6742T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6524T>C
  hgvsp: ENSP00000356224.5:p.Val2175Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6524T>C
  hgvsp: ENSP00000265368.4:p.Val2175Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.221T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6545T>C
  hgvsp: ENSP00000396024.1:p.Val2182Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6545T>C
  hgvsp: ENSP00000390975.1:p.Val2182Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2175Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

6-152730220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730220
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730220
    reference: chr 6
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6523G>A
  hgvsp: ENSP00000265368.4:p.Val2175Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.220G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6544G>A
  hgvsp: ENSP00000390975.1:p.Val2182Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6523G>A
  hgvsp: ENSP00000356224.5:p.Val2175Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6544G>A
  hgvsp: ENSP00000396024.1:p.Val2182Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6741G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6634G>A
  hgvsp: ENSP00000341887.5:p.Val2212Met
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13003
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8493
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val2175Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

6-152730221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730221
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730221
    reference: chr 6
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6543C>T
  hgvsp: ENST00000448038.1:c.6543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6522C>T
  hgvsp: ENST00000367255.5:c.6522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.219C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6543C>T
  hgvsp: ENST00000423061.1:c.6543C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6633C>T
  hgvsp: ENST00000341594.5:c.6633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6522C>T
  hgvsp: ENST00000265368.4:c.6522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6740C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13003
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Thr2174Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-152730222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730222
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730222
    reference: chr 6
allele count: 139
allele frequency: 1.145239429192894e-3
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6632C>T
  hgvsp: ENSP00000341887.5:p.Thr2211Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6542C>T
  hgvsp: ENSP00000390975.1:p.Thr2181Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6521C>T
  hgvsp: ENSP00000356224.5:p.Thr2174Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6521C>T
  hgvsp: ENSP00000265368.4:p.Thr2174Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6542C>T
  hgvsp: ENSP00000396024.1:p.Thr2181Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6739C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.218C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19721
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr2174Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

6-152730223-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730223
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730223
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6520A>C
  hgvsp: ENSP00000265368.4:p.Thr2174Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6520A>C
  hgvsp: ENSP00000356224.5:p.Thr2174Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6631A>C
  hgvsp: ENSP00000341887.5:p.Thr2211Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6541A>C
  hgvsp: ENSP00000396024.1:p.Thr2181Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6738A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.217A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6541A>C
  hgvsp: ENSP00000390975.1:p.Thr2181Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12918
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr2174Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

6-152730225-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730225
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730225
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6539G>C
  hgvsp: ENSP00000396024.1:p.Ser2180Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6736G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.215G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6518G>C
  hgvsp: ENSP00000265368.4:p.Ser2173Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6539G>C
  hgvsp: ENSP00000390975.1:p.Ser2180Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6629G>C
  hgvsp: ENSP00000341887.5:p.Ser2210Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6518G>C
  hgvsp: ENSP00000356224.5:p.Ser2173Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2173Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

6-152730229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730229
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730229
    reference: chr 6
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6625G>A
  hgvsp: ENSP00000341887.5:p.Glu2209Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6732G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6514G>A
  hgvsp: ENSP00000356224.5:p.Glu2172Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6535G>A
  hgvsp: ENSP00000396024.1:p.Glu2179Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.211G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6535G>A
  hgvsp: ENSP00000390975.1:p.Glu2179Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6514G>A
  hgvsp: ENSP00000265368.4:p.Glu2172Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2172Lys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

6-152730249-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730249
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730249
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6515G>C
  hgvsp: ENSP00000390975.1:p.Ser2172Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6605G>C
  hgvsp: ENSP00000341887.5:p.Ser2202Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6515G>C
  hgvsp: ENSP00000396024.1:p.Ser2172Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6712G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.191G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6494G>C
  hgvsp: ENSP00000356224.5:p.Ser2165Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6494G>C
  hgvsp: ENSP00000265368.4:p.Ser2165Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12915
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser2165Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

6-152730259-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730259
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730259
    reference: chr 6
allele count: 43
allele frequency: 3.542593507991432e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6484A>T
  hgvsp: ENSP00000356224.5:p.Ser2162Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6505A>T
  hgvsp: ENSP00000390975.1:p.Ser2169Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6595A>T
  hgvsp: ENSP00000341887.5:p.Ser2199Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6505A>T
  hgvsp: ENSP00000396024.1:p.Ser2169Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.181A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6702A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6484A>T
  hgvsp: ENSP00000265368.4:p.Ser2162Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2162Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

6-152730263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730263
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730263
    reference: chr 6
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6501C>T
  hgvsp: ENST00000448038.1:c.6501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.177C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6591C>T
  hgvsp: ENST00000341594.5:c.6591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6501C>T
  hgvsp: ENST00000423061.1:c.6501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6480C>T
  hgvsp: ENST00000367255.5:c.6480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6480C>T
  hgvsp: ENST00000265368.4:c.6480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6698C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12902
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His2160His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-152730267-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730267
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730267
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6694T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6497T>G
  hgvsp: ENSP00000396024.1:p.Ile2166Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6476T>G
  hgvsp: ENSP00000265368.4:p.Ile2159Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.173T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6476T>G
  hgvsp: ENSP00000356224.5:p.Ile2159Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6497T>G
  hgvsp: ENSP00000390975.1:p.Ile2166Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6587T>G
  hgvsp: ENSP00000341887.5:p.Ile2196Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile2159Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-152730273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730273
    reference: chr 6
allele count: 855
allele frequency: 7.044226206169259e-3
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6688A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6491A>G
  hgvsp: ENSP00000390975.1:p.Lys2164Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6470A>G
  hgvsp: ENSP00000356224.5:p.Lys2157Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6491A>G
  hgvsp: ENSP00000396024.1:p.Lys2164Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6581A>G
  hgvsp: ENSP00000341887.5:p.Lys2194Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.167A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6470A>G
  hgvsp: ENSP00000265368.4:p.Lys2157Arg
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19746
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 9.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Lys2157Arg
num of homozygotes: 31
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

6-152730282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730282
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730282
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6461C>T
  hgvsp: ENSP00000356224.5:p.Ser2154Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6572C>T
  hgvsp: ENSP00000341887.5:p.Ser2191Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6482C>T
  hgvsp: ENSP00000390975.1:p.Ser2161Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6679C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6461C>T
  hgvsp: ENSP00000265368.4:p.Ser2154Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.158C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6482C>T
  hgvsp: ENSP00000396024.1:p.Ser2161Phe
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2154Phe
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

6-152730289-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730289
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730289
    reference: chr 6
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6454T>C
  hgvsp: ENST00000265368.4:c.6454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.151T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6475T>C
  hgvsp: ENST00000448038.1:c.6475T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6565T>C
  hgvsp: ENST00000341594.5:c.6565T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6672T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6475T>C
  hgvsp: ENST00000423061.1:c.6475T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6454T>C
  hgvsp: ENST00000367255.5:c.6454T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2152Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-152730299-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730299
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730299
    reference: chr 6
allele count: 5
allele frequency: 4.119905736556747e-5
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6555A>C
  hgvsp: ENSP00000341887.5:p.Lys2185Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6444A>C
  hgvsp: ENSP00000265368.4:p.Lys2148Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6465A>C
  hgvsp: ENSP00000396024.1:p.Lys2155Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.141A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6444A>C
  hgvsp: ENSP00000356224.5:p.Lys2148Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6662A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6465A>C
  hgvsp: ENSP00000390975.1:p.Lys2155Asn
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys2148Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-152730302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730302
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730302
    reference: chr 6
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.138C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6441C>T
  hgvsp: ENST00000265368.4:c.6441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6441C>T
  hgvsp: ENST00000367255.5:c.6441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6462C>T
  hgvsp: ENST00000423061.1:c.6462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6552C>T
  hgvsp: ENST00000341594.5:c.6552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6462C>T
  hgvsp: ENST00000448038.1:c.6462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6659C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2147Ser
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152730312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730312
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730312
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6542A>G
  hgvsp: ENSP00000341887.5:p.Asn2181Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.128A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6431A>G
  hgvsp: ENSP00000265368.4:p.Asn2144Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6452A>G
  hgvsp: ENSP00000390975.1:p.Asn2151Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6452A>G
  hgvsp: ENSP00000396024.1:p.Asn2151Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6431A>G
  hgvsp: ENSP00000356224.5:p.Asn2144Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6649A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn2144Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

6-152730315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730315
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730315
    reference: chr 6
allele count: 7
allele frequency: 5.768723628691983e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6539A>G
  hgvsp: ENSP00000341887.5:p.Asp2180Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.125A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6449A>G
  hgvsp: ENSP00000396024.1:p.Asp2150Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6428A>G
  hgvsp: ENSP00000265368.4:p.Asp2143Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6449A>G
  hgvsp: ENSP00000390975.1:p.Asp2150Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6428A>G
  hgvsp: ENSP00000356224.5:p.Asp2143Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6646A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23162
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp2143Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-152730321-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730321
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730321
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6640A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6533A>T
  hgvsp: ENSP00000341887.5:p.Asp2178Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.119A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6422A>T
  hgvsp: ENSP00000356224.5:p.Asp2141Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6422A>T
  hgvsp: ENSP00000265368.4:p.Asp2141Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6443A>T
  hgvsp: ENSP00000396024.1:p.Asp2148Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6443A>T
  hgvsp: ENSP00000390975.1:p.Asp2148Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2141Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/6-152730322-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152730322
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152730322
    reference: chr 6
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000535081
  gene symbol: SYNE1
  hgvsc: ENST00000535081.1:n.118G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.6442G>T
  hgvsp: ENSP00000396024.1:p.Asp2148Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.6421G>T
  hgvsp: ENSP00000356224.5:p.Asp2141Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.6532G>T
  hgvsp: ENSP00000341887.5:p.Asp2178Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000461872
  gene symbol: SYNE1
  hgvsc: ENST00000461872.2:n.6639G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.6421G>T
  hgvsp: ENSP00000265368.4:p.Asp2141Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.6442G>T
  hgvsp: ENSP00000390975.1:p.Asp2148Tyr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp2141Tyr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 413
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25443
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3932
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3635
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505045651129265e-5
allele num: 66592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.57891e6

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.388e0

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

GenotypeQuality
all individuals: 25431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5169
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
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: 66556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.587011e6

QD
type: SiteQuality
SIO_000300: 1.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 4.276e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

VQSLOD
type: SiteQuality
SIO_000300: -9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 25431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.51e-2

DP
type: SiteQuality
SIO_000300: 2.586983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: -2.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

FS
type: SiteQuality
SIO_000300: 4.715e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

GenotypeQuality
all individuals: 13327
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5145
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 25432
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variant carriers: 1

GenotypeQuality
all individuals: 2508
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3619
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variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
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: 16314
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.586106e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.699e0

VQSLOD
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 6.47e0

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 491
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12443
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 5

GenotypeQuality
all individuals: 39
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variant carriers: 1

GenotypeQuality
all individuals: 51
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variant carriers: 3

GenotypeQuality
all individuals: 2830
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 217
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variant carriers: 1

GenotypeQuality
all individuals: 2340
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 4746
bin: 6.75e1
variant carriers: 4

Other
type: Population
allele count: 35
allele frequency: 3.863134657836645e-2
allele num: 906
num of homozygotes: 2

East Asian
type: Population
allele count: 1903
allele frequency: 2.210220673635308e-1
allele num: 8610
num of homozygotes: 211

South Asian
type: Population
allele count: 1545
allele frequency: 9.367042560931248e-2
allele num: 16494
num of homozygotes: 88

Latino
type: Population
allele count: 951
allele frequency: 8.250910983862572e-2
allele num: 11526
num of homozygotes: 46

African
type: Population
allele count: 23
allele frequency: 2.239096573208723e-3
allele num: 10272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 245
allele frequency: 3.709872804360993e-2
allele num: 6604
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 450
allele frequency: 6.763662598448867e-3
allele num: 66532
num of homozygotes: 2

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.89e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.626e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.117e1

QD
type: SiteQuality
SIO_000300: 1.148e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 2.605e0

DP
type: SiteQuality
SIO_000300: 2.686212e6

GenotypeQuality
all individuals: 444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
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variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 3793
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 856
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variant carriers: 0

GenotypeQuality
all individuals: 3556
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variant carriers: 0

GenotypeQuality
all individuals: 3095
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variant carriers: 0

GenotypeQuality
all individuals: 923
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variant carriers: 0

GenotypeQuality
all individuals: 26266
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10155
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.961553550411926e-4
allele num: 10196
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: 66400
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 1.415e0

DP
type: SiteQuality
SIO_000300: 2.548788e6

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 1014
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variant carriers: 0

GenotypeQuality
all individuals: 499
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GenotypeQuality
all individuals: 3556
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GenotypeQuality
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 10155
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2428
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variant carriers: 0

GenotypeQuality
all individuals: 3095
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variant carriers: 0

GenotypeQuality
all individuals: 26266
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.807767752059631e-5
allele num: 10196
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.415e0

DP
type: SiteQuality
SIO_000300: 2.548788e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 4199
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
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variant carriers: 0

GenotypeQuality
all individuals: 684
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variant carriers: 0

GenotypeQuality
all individuals: 104
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GenotypeQuality
all individuals: 1983
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variant carriers: 0

GenotypeQuality
all individuals: 516
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GenotypeQuality
all individuals: 6118
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variant carriers: 0

GenotypeQuality
all individuals: 2059
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variant carriers: 0

GenotypeQuality
all individuals: 3090
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variant carriers: 0

GenotypeQuality
all individuals: 3530
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variant carriers: 0

GenotypeQuality
all individuals: 925
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variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.545e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 2.536676e6

GenotypeQuality
all individuals: 552
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
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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
all individuals: 15
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GenotypeQuality
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GenotypeQuality
all individuals: 1192
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GenotypeQuality
all individuals: 2468
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variant carriers: 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: 8574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.519701618239789e-5
allele num: 66492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

DP
type: SiteQuality
SIO_000300: 1.746403e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.484e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

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

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 2709
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
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Other
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

MQRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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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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allele frequency: 0.0e0
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European (Finnish)
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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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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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ClippingRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Other
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

VQSLOD
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FS
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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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South Asian
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.499115521842113e-5
allele num: 66706
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East Asian
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European (Finnish)
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African
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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MQ
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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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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East Asian
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European (Finnish)
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South Asian
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Other
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African
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European (Non-Finnish)
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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Latino
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.776355e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37689
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 2.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.045e0

QD
type: SiteQuality
SIO_000300: 1.567e1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.77715e6

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.777748e6

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.731e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37688
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6498
bin: 9.75e1
variant carriers: 33

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.235498035590478e-3
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

DP
type: SiteQuality
SIO_000300: 1.779316e6

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6466
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.777022e6

FS
type: SiteQuality
SIO_000300: 6.471e0

VQSLOD
type: SiteQuality
SIO_000300: -1.542e0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 2.439e0

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.776994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.519e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.09e-1

DP
type: SiteQuality
SIO_000300: 1.776787e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

QD
type: SiteQuality
SIO_000300: 1.128e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeQuality
all individuals: 6475
bin: 9.75e1
variant carriers: 13

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

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7443
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37684
bin: 6.25e1
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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.503933364183248e-3
allele num: 8644
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.777193e6

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 1.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 7447
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 37663
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1785
bin: 8.25e1
variant carriers: 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: 10404
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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.18e0

DP
type: SiteQuality
SIO_000300: 1.776583e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

FS
type: SiteQuality
SIO_000300: 3.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.616e-1

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37633
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.776237e6

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

GenotypeQuality
all individuals: 1780
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37322
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.737e-1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
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SIO_000300: -3.507e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

DP
type: SiteQuality
SIO_000300: 1.773317e6

QD
type: SiteQuality
SIO_000300: 1.088e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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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: 16446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
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: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

QD
type: SiteQuality
SIO_000300: 1.73e1

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

FS
type: SiteQuality
SIO_000300: 2.886e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.771135e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551108953548348e-5
allele num: 65918
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: 8520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-1

FS
type: SiteQuality
SIO_000300: 2.629e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

DP
type: SiteQuality
SIO_000300: 1.743359e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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: 10318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.58272310169852e-4
allele num: 65822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.739273e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.184e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 6.29e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
all individuals: 1709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2520
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65478
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.942879347192539e-4
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.719554e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.325e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5104
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.768800497203231e-5
allele num: 64360
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.309e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0

DP
type: SiteQuality
SIO_000300: 1.618314e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1407e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 1
allele frequency: 1.221001221001221e-4
allele num: 8190
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.477834e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.567e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.987281399046105e-4
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62970
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.454505e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

FS
type: SiteQuality
SIO_000300: 2.489e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.195398625978591e-5
allele num: 62590
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8088
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6342
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VQSLOD
type: SiteQuality
SIO_000300: -2.254e0

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.447845e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 4

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

GenotypeQuality
all individuals: 773
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.597701149425287e-3
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 499
allele frequency: 4.992995797478487e-2
allele num: 9994
num of homozygotes: 13

Latino
type: Population
allele count: 19
allele frequency: 1.743119266055046e-3
allele num: 10900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.439907845897862e-4
allele num: 62504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.288517167651868e-5
allele num: 15902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.536e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.429571e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.84e-2

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3103
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.63821892393321e-4
allele num: 10780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62062
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.424638e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.386e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 219

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

African
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allele count: 208
allele frequency: 2.006172839506173e-2
allele num: 10368
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.00144023043687e-5
allele num: 66656
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 2.202635e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

FS
type: SiteQuality
SIO_000300: 7.33e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

VQSLOD
type: SiteQuality
SIO_000300: -1.451e0

DP
type: SiteQuality
SIO_000300: 2.199564e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.15e0

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
all individuals: 2609
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 10378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
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: 8640
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 2.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.466e0

DP
type: SiteQuality
SIO_000300: 2.202184e6

QD
type: SiteQuality
SIO_000300: 8.73e0

GenotypeQuality
all individuals: 22661
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variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 30
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 2.769e0

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.81e1

DP
type: SiteQuality
SIO_000300: 2.205414e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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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: 22709
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GenotypeQuality
all individuals: 1799
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 5.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.609e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.205613e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.5e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 2.206288e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4672
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
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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: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.206413e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
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ClippingRankSum
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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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Other
type: Population
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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
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
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VQSLOD
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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variant carriers: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

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

Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
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SIO_000300: 8.159999999999999e-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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bin: 5.25e1
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East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Other
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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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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Latino
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num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
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Other
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 5.828e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
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SIO_000300: 6.488e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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East Asian
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allele num: 8648
num of homozygotes: 0

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

ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: -5.779e0

DP
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VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

ReadPosRankSum
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SIO_000300: -8.120000000000001e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 5.234e0

GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.856e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.377e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-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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bin: 9.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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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DP
type: SiteQuality
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MQRankSum
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ClippingRankSum
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SIO_000300: 4.68e-1

BaseQRankSum
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11572
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.817080557238038e-4
allele num: 16510
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

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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Other
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allele count: 0
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num of homozygotes: 0

African
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East Asian
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Latino
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South Asian
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allele num: 16510
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European (Non-Finnish)
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allele count: 3
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allele num: 66724
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 906
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Latino
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African
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European (Finnish)
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allele num: 6610
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East Asian
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European (Non-Finnish)
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allele count: 98
allele frequency: 1.468736886277801e-3
allele num: 66724
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South Asian
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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QD
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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African
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East Asian
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Other
type: Population
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allele num: 906
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South Asian
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European (Finnish)
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Latino
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16510
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Other
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
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Latino
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Other
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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Latino
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allele frequency: 3.456022118541559e-4
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African
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allele frequency: 3.749278984810613e-3
allele num: 10402
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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SIO_000300: 5.921e1

DP
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -3.1e-2

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

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

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

African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Latino
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Other
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10402
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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VQSLOD
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ClippingRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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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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East Asian
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Other
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Latino
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allele frequency: 3.28208671618587e-3
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South Asian
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African
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allele frequency: 7.355769230769231e-2
allele num: 10400
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European (Finnish)
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allele num: 6610
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European (Non-Finnish)
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allele frequency: 6.894277749467942e-4
allele num: 66722
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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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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East Asian
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Latino
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European (Finnish)
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Other
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African
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South Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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ClippingRankSum
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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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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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African
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 12528
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.715e0

DP
type: SiteQuality
SIO_000300: 2.19513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 3.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12524
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.453e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 2.195015e6

QD
type: SiteQuality
SIO_000300: 9.67e0

FS
type: SiteQuality
SIO_000300: 1.883e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23173
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8573
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.194799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e0

VQSLOD
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

FS
type: SiteQuality
SIO_000300: 7.899e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

GenotypeQuality
all individuals: 12520
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8575
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3894
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.734654608427939e-4
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

FS
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.194947e6

GenotypeQuality
all individuals: 12516
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4700
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1804
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
SIO_000300: 8.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 2.194538e6

VQSLOD
type: SiteQuality
SIO_000300: -4.698e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.964e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 6.984e0