6-152462490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462490
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462490
    reference: chr 6
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-26G>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.23956-26G>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.25120-26G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-26G>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-26G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-26G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-26G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-26G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-26G>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.25120-26G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-26G>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.24976-26G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-26G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-26G>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.24976-26G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-26G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-152462496-C-CGTGGATCACGAGGTCAGGAGATGGAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462496
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462523
    reference: chr 6
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: CGTGGATCACGAGGTCAGGAGATGGAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  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
  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
  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
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-152462499-A-ATCCTGGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462499
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462507
    reference: chr 6
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: ATCCTGGCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  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
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

6-152462501-A-ACACGGCGAAACCCCACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462501
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462518
    reference: chr 6
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: ACACGGCGAAACCCCACC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  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
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  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
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

6-152462503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462503
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462503
    reference: chr 6
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-39G>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-39G>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.25120-39G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-39G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-39G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-39G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-39G>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.23956-39G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-39G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-39G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-39G>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.24976-39G>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.25120-39G>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.24976-39G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-39G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-39G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-152462506-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462506
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462507
    reference: chr 6
allele count: 5
allele frequency: 4.125616779708567e-5
allele num: 121194
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24976-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-43dupT
  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.24976-43dupT
  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.23956-43dupT
  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.25120-43dupT
  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.25120-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-43dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-43dupT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6929
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

6-152462508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462508
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462508
    reference: chr 6
allele count: 9
allele frequency: 7.426968146558838e-5
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-44A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-44A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-44A>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-44A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-44A>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-44A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-44A>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.25120-44A>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-44A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-44A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-44A>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.24976-44A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-44A>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.23956-44A>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.25120-44A>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.24976-44A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

6-152462511-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462511
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462511
    reference: chr 6
allele count: 4
allele frequency: 3.302019184731463e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-47C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-47C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-47C>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.24976-47C>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.23956-47C>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.25120-47C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-47C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-47C>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.24976-47C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-47C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-47C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-47C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-47C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-47C>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.25120-47C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-47C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

6-152462514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462514
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462514
    reference: chr 6
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-50G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-50G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-50G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-50G>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.24976-50G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-50G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-50G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-50G>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.23956-50G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-50G>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.25120-50G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-50G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-50G>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.25120-50G>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.24976-50G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-50G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-152462515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152462515
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152462515
    reference: chr 6
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8692-51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3058-51T>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.25120-51T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1957-51T>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.24976-51T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4142-51T>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.24976-51T>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.25120-51T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8704-51T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8812-51T>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.23956-51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1654-51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3955-51T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1868-51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1585-51T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1734-51T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

6-152464707-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464707
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464707
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.24975+51T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+51T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+51T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+51T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+51T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+51T>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.25119+51T>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.24975+51T>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.25119+51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+51T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+51T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+51T>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.23955+51T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

6-152464722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464722
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464722
    reference: chr 6
allele count: 10
allele frequency: 8.236553825879252e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.25119+36G>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.24975+36G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+36G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+36G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+36G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+36G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+36G>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.23955+36G>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.25119+36G>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+36G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+36G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+36G>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.24975+36G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+36G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+36G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+36G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

6-152464729-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464729
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464729
    reference: chr 6
allele count: 106
allele frequency: 8.730603235265048e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+29C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+29C>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.25119+29C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+29C>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.24975+29C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+29C>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.23955+29C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+29C>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.25119+29C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+29C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+29C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+29C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+29C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+29C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+29C>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.24975+29C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-152464731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464731
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464731
    reference: chr 6
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
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.25119+27G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+27G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+27G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+27G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+27G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+27G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+27G>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.23955+27G>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.24975+27G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+27G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+27G>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.25119+27G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+27G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+27G>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+27G>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.24975+27G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

6-152464732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464732
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464732
    reference: chr 6
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
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.24975+26C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+26C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+26C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+26C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+26C>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.24975+26C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+26C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+26C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+26C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+26C>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.23955+26C>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.25119+26C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+26C>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.25119+26C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+26C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+26C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

6-152464733-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464733
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464732
    reference: chr 6
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+24delT
  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.23955+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+24delT
  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.25119+24delT
  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.25119+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+24delT
  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.24975+24delT
  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.24975+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+24delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+24delT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: GA
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

6-152464738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464738
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464738
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+20T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+20T>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.25119+20T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+20T>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.25119+20T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+20T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+20T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+20T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+20T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+20T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+20T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+20T>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.24975+20T>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.23955+20T>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.24975+20T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+20T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20061
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-152464740-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464740
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464740
    reference: chr 6
allele count: 15
allele frequency: 1.235462721971469e-4
allele num: 121412
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.23955+18C>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.24975+18C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956+18C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811+18C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691+18C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141+18C>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.24975+18C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867+18C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584+18C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954+18C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653+18C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703+18C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057+18C>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.25119+18C>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.25119+18C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733+18C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20070
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

6-152464758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464758
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464758
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1867C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1653C>T
  hgvsp: ENST00000354674.4:c.1653C>T(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: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.23955C>T
  hgvsp: ENST00000341594.5:c.23955C>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1733C>T
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8811C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1584C>T
  hgvsp: ENST00000539504.1:c.1584C>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8703C>T
  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.25119C>T
  hgvsp: ENST00000367255.5:c.25119C>T(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.24975C>T
  hgvsp: ENST00000423061.1:c.24975C>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1956C>T
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4141C>T
  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.25119C>T
  hgvsp: ENST00000265368.4:c.25119C>T(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: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3954C>T
  hgvsp: ENST00000367251.3:c.3954C>T(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: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.24975C>T
  hgvsp: ENST00000448038.1:c.24975C>T(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: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8691C>T
  hgvsp: ENST00000356820.4:c.8691C>T(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: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3057C>T
  hgvsp: ENST00000367257.4:c.3057C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.25119C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

6-152464759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464759
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464759
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1866A>G
  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.24974A>G
  hgvsp: ENSP00000390975.1:p.Tyr8325Cys
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8810A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3056A>G
  hgvsp: ENSP00000356226.4:p.Tyr1019Cys
  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.23954A>G
  hgvsp: ENSP00000341887.5:p.Tyr7985Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8690A>G
  hgvsp: ENSP00000349276.4:p.Tyr2897Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1652A>G
  hgvsp: ENSP00000346701.4:p.Tyr551Cys
  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.25118A>G
  hgvsp: ENSP00000265368.4:p.Tyr8373Cys
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8702A>G
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1955A>G
  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.24974A>G
  hgvsp: ENSP00000396024.1:p.Tyr8325Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1583A>G
  hgvsp: ENSP00000441052.1:p.Tyr528Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3953A>G
  hgvsp: ENSP00000356220.3:p.Tyr1318Cys
  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.25118A>G
  hgvsp: ENSP00000356224.5:p.Tyr8373Cys
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1732A>G
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4140A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr8373Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

6-152464773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464773
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464773
    reference: chr 6
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.25104C>T
  hgvsp: ENST00000367255.5:c.25104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3042C>T
  hgvsp: ENST00000367257.4:c.3042C>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.25104C>T
  hgvsp: ENST00000265368.4:c.25104C>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.24960C>T
  hgvsp: ENST00000448038.1:c.24960C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1852C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8688C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1569C>T
  hgvsp: ENST00000539504.1:c.1569C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8796C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3939C>T
  hgvsp: ENST00000367251.3:c.3939C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1941C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8676C>T
  hgvsp: ENST00000356820.4:c.8676C>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.23940C>T
  hgvsp: ENST00000341594.5:c.23940C>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.24960C>T
  hgvsp: ENST00000423061.1:c.24960C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4126C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1638C>T
  hgvsp: ENST00000354674.4:c.1638C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1718C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8368Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

6-152464774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464774
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464774
    reference: chr 6
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1568C>T
  hgvsp: ENSP00000441052.1:p.Thr523Ile
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1717C>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.25103C>T
  hgvsp: ENSP00000356224.5:p.Thr8368Ile
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4125C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3041C>T
  hgvsp: ENSP00000356226.4:p.Thr1014Ile
  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.24959C>T
  hgvsp: ENSP00000396024.1:p.Thr8320Ile
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8795C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8675C>T
  hgvsp: ENSP00000349276.4:p.Thr2892Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1637C>T
  hgvsp: ENSP00000346701.4:p.Thr546Ile
  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.24959C>T
  hgvsp: ENSP00000390975.1:p.Thr8320Ile
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1940C>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.23939C>T
  hgvsp: ENSP00000341887.5:p.Thr7980Ile
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8687C>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.25103C>T
  hgvsp: ENSP00000265368.4:p.Thr8368Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3938C>T
  hgvsp: ENSP00000356220.3:p.Thr1313Ile
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1851C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8368Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

6-152464775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464775
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464775
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4124A>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.23938A>G
  hgvsp: ENSP00000341887.5:p.Thr7980Ala
  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.24958A>G
  hgvsp: ENSP00000390975.1:p.Thr8320Ala
  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.25102A>G
  hgvsp: ENSP00000356224.5:p.Thr8368Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1567A>G
  hgvsp: ENSP00000441052.1:p.Thr523Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8674A>G
  hgvsp: ENSP00000349276.4:p.Thr2892Ala
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8686A>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.24958A>G
  hgvsp: ENSP00000396024.1:p.Thr8320Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3937A>G
  hgvsp: ENSP00000356220.3:p.Thr1313Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1636A>G
  hgvsp: ENSP00000346701.4:p.Thr546Ala
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8794A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1850A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1939A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1716A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3040A>G
  hgvsp: ENSP00000356226.4:p.Thr1014Ala
  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.25102A>G
  hgvsp: ENSP00000265368.4:p.Thr8368Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8368Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

6-152464783-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464783
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464783
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8678A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1842A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3032A>G
  hgvsp: ENSP00000356226.4:p.Glu1011Gly
  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.24950A>G
  hgvsp: ENSP00000390975.1:p.Glu8317Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8666A>G
  hgvsp: ENSP00000349276.4:p.Glu2889Gly
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4116A>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.23930A>G
  hgvsp: ENSP00000341887.5:p.Glu7977Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1559A>G
  hgvsp: ENSP00000441052.1:p.Glu520Gly
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1931A>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.24950A>G
  hgvsp: ENSP00000396024.1:p.Glu8317Gly
  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.25094A>G
  hgvsp: ENSP00000265368.4:p.Glu8365Gly
  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.25094A>G
  hgvsp: ENSP00000356224.5:p.Glu8365Gly
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1708A>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8786A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1628A>G
  hgvsp: ENSP00000346701.4:p.Glu543Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3929A>G
  hgvsp: ENSP00000356220.3:p.Glu1310Gly
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu8365Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

6-152464785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464785
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464785
    reference: chr 6
allele count: 14
allele frequency: 1.153098540506704e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1706G>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.24948G>A
  hgvsp: ENST00000448038.1:c.24948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1557G>A
  hgvsp: ENST00000539504.1:c.1557G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1840G>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.23928G>A
  hgvsp: ENST00000341594.5:c.23928G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8784G>A
  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.25092G>A
  hgvsp: ENST00000367255.5:c.25092G>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.25092G>A
  hgvsp: ENST00000265368.4:c.25092G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4114G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8664G>A
  hgvsp: ENST00000356820.4:c.8664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3030G>A
  hgvsp: ENST00000367257.4:c.3030G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1626G>A
  hgvsp: ENST00000354674.4:c.1626G>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.24948G>A
  hgvsp: ENST00000423061.1:c.24948G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8676G>A
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1929G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3927G>A
  hgvsp: ENST00000367251.3:c.3927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro8364Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

6-152464786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464786
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464786
    reference: chr 6
allele count: 224
allele frequency: 1.844957664810727e-3
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1928C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8675C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1556C>T
  hgvsp: ENSP00000441052.1:p.Pro519Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3926C>T
  hgvsp: ENSP00000356220.3:p.Pro1309Leu
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1839C>T
  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.24947C>T
  hgvsp: ENSP00000390975.1:p.Pro8316Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8663C>T
  hgvsp: ENSP00000349276.4:p.Pro2888Leu
  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.25091C>T
  hgvsp: ENSP00000356224.5:p.Pro8364Leu
  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.25091C>T
  hgvsp: ENSP00000265368.4:p.Pro8364Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1625C>T
  hgvsp: ENSP00000346701.4:p.Pro542Leu
  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.23927C>T
  hgvsp: ENSP00000341887.5:p.Pro7976Leu
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1705C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3029C>T
  hgvsp: ENSP00000356226.4:p.Pro1010Leu
  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.24947C>T
  hgvsp: ENSP00000396024.1:p.Pro8316Leu
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4113C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8783C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro8364Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-152464791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464791
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464791
    reference: chr 6
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1700G>A
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8670G>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.24942G>A
  hgvsp: ENST00000423061.1:c.24942G>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.24942G>A
  hgvsp: ENST00000448038.1:c.24942G>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.25086G>A
  hgvsp: ENST00000265368.4:c.25086G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8658G>A
  hgvsp: ENST00000356820.4:c.8658G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4108G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1620G>A
  hgvsp: ENST00000354674.4:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1551G>A
  hgvsp: ENST00000539504.1:c.1551G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1923G>A
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1834G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3921G>A
  hgvsp: ENST00000367251.3:c.3921G>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.25086G>A
  hgvsp: ENST00000367255.5:c.25086G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8778G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3024G>A
  hgvsp: ENST00000367257.4:c.3024G>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.23922G>A
  hgvsp: ENST00000341594.5:c.23922G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8362Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-152464792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464792
    reference: chr 6
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24941C>T
  hgvsp: ENSP00000396024.1:p.Thr8314Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1619C>T
  hgvsp: ENSP00000346701.4:p.Thr540Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1550C>T
  hgvsp: ENSP00000441052.1:p.Thr517Met
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1833C>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.23921C>T
  hgvsp: ENSP00000341887.5:p.Thr7974Met
  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.25085C>T
  hgvsp: ENSP00000356224.5:p.Thr8362Met
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4107C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8657C>T
  hgvsp: ENSP00000349276.4:p.Thr2886Met
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1699C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8777C>T
  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.24941C>T
  hgvsp: ENSP00000390975.1:p.Thr8314Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3920C>T
  hgvsp: ENSP00000356220.3:p.Thr1307Met
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1922C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3023C>T
  hgvsp: ENSP00000356226.4:p.Thr1008Met
  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.25085C>T
  hgvsp: ENSP00000265368.4:p.Thr8362Met
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8669C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20096
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8362Met
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

6-152464801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464801
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464801
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4098A>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.25076A>G
  hgvsp: ENSP00000356224.5:p.Lys8359Arg
  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.23912A>G
  hgvsp: ENSP00000341887.5:p.Lys7971Arg
  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.24932A>G
  hgvsp: ENSP00000396024.1:p.Lys8311Arg
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1824A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1913A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1690A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3014A>G
  hgvsp: ENSP00000356226.4:p.Lys1005Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1541A>G
  hgvsp: ENSP00000441052.1:p.Lys514Arg
  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.24932A>G
  hgvsp: ENSP00000390975.1:p.Lys8311Arg
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8768A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8648A>G
  hgvsp: ENSP00000349276.4:p.Lys2883Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1610A>G
  hgvsp: ENSP00000346701.4:p.Lys537Arg
  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.25076A>G
  hgvsp: ENSP00000265368.4:p.Lys8359Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3911A>G
  hgvsp: ENSP00000356220.3:p.Lys1304Arg
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8660A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys8359Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

6-152464807-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464807
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464807
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
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.24926G>C
  hgvsp: ENSP00000396024.1:p.Arg8309Pro
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1818G>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.24926G>C
  hgvsp: ENSP00000390975.1:p.Arg8309Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1535G>C
  hgvsp: ENSP00000441052.1:p.Arg512Pro
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4092G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1907G>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.25070G>C
  hgvsp: ENSP00000356224.5:p.Arg8357Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3008G>C
  hgvsp: ENSP00000356226.4:p.Arg1003Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8642G>C
  hgvsp: ENSP00000349276.4:p.Arg2881Pro
  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.25070G>C
  hgvsp: ENSP00000265368.4:p.Arg8357Pro
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1684G>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.23906G>C
  hgvsp: ENSP00000341887.5:p.Arg7969Pro
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8654G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8762G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3905G>C
  hgvsp: ENSP00000356220.3:p.Arg1302Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1604G>C
  hgvsp: ENSP00000346701.4:p.Arg535Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8357Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

6-152464807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464807
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464807
    reference: chr 6
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
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.23906G>A
  hgvsp: ENSP00000341887.5:p.Arg7969His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1604G>A
  hgvsp: ENSP00000346701.4:p.Arg535His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1535G>A
  hgvsp: ENSP00000441052.1:p.Arg512His
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8654G>A
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1818G>A
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1907G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3008G>A
  hgvsp: ENSP00000356226.4:p.Arg1003His
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1684G>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.24926G>A
  hgvsp: ENSP00000390975.1:p.Arg8309His
  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.25070G>A
  hgvsp: ENSP00000356224.5:p.Arg8357His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8642G>A
  hgvsp: ENSP00000349276.4:p.Arg2881His
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4092G>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.25070G>A
  hgvsp: ENSP00000265368.4:p.Arg8357His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3905G>A
  hgvsp: ENSP00000356220.3:p.Arg1302His
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8762G>A
  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.24926G>A
  hgvsp: ENSP00000396024.1:p.Arg8309His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8357His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

6-152464808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464808
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464808
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
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.23905C>T
  hgvsp: ENSP00000341887.5:p.Arg7969Cys
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8653C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1603C>T
  hgvsp: ENSP00000346701.4:p.Arg535Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8641C>T
  hgvsp: ENSP00000349276.4:p.Arg2881Cys
  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.24925C>T
  hgvsp: ENSP00000396024.1:p.Arg8309Cys
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1683C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4091C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1906C>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.25069C>T
  hgvsp: ENSP00000356224.5:p.Arg8357Cys
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8761C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1817C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1534C>T
  hgvsp: ENSP00000441052.1:p.Arg512Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3007C>T
  hgvsp: ENSP00000356226.4:p.Arg1003Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3904C>T
  hgvsp: ENSP00000356220.3:p.Arg1302Cys
  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.25069C>T
  hgvsp: ENSP00000265368.4:p.Arg8357Cys
  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.24925C>T
  hgvsp: ENSP00000390975.1:p.Arg8309Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20097
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8357Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

6-152464809-AATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464809
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464806
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3900_3902delCAT
  hgvsp: ENSP00000356220.3:p.Ile1301del
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4087_4089delCAT
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1813_1815delCAT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.23901_23903delCAT
  hgvsp: ENSP00000341887.5:p.Ile7968del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1530_1532delCAT
  hgvsp: ENSP00000441052.1:p.Ile511del
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8757_8759delCAT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.25065_25067delCAT
  hgvsp: ENSP00000265368.4:p.Ile8356del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3003_3005delCAT
  hgvsp: ENSP00000356226.4:p.Ile1002del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.25065_25067delCAT
  hgvsp: ENSP00000356224.5:p.Ile8356del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8637_8639delCAT
  hgvsp: ENSP00000349276.4:p.Ile2880del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24921_24923delCAT
  hgvsp: ENSP00000396024.1:p.Ile8308del
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1902_1904delCAT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.24921_24923delCAT
  hgvsp: ENSP00000390975.1:p.Ile8308del
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1599_1601delCAT
  hgvsp: ENSP00000346701.4:p.Ile534del
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8649_8651delCAT
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1679_1681delCAT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20098
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile8356del
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: AATG
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

6-152464815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464815
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464815
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
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.25062T>C
  hgvsp: ENST00000265368.4:c.25062T>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.24918T>C
  hgvsp: ENST00000448038.1:c.24918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1527T>C
  hgvsp: ENST00000539504.1:c.1527T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.3000T>C
  hgvsp: ENST00000367257.4:c.3000T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8646T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8634T>C
  hgvsp: ENST00000356820.4:c.8634T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1899T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3897T>C
  hgvsp: ENST00000367251.3:c.3897T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8754T>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.25062T>C
  hgvsp: ENST00000367255.5:c.25062T>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.24918T>C
  hgvsp: ENST00000423061.1:c.24918T>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.23898T>C
  hgvsp: ENST00000341594.5:c.23898T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1810T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4084T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1596T>C
  hgvsp: ENST00000354674.4:c.1596T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1676T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn8354Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

6-152464821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464821
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464821
    reference: chr 6
allele count: 21
allele frequency: 1.729647810760057e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1804C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2994C>T
  hgvsp: ENST00000367257.4:c.2994C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4078C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1893C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8640C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8628C>T
  hgvsp: ENST00000356820.4:c.8628C>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.25056C>T
  hgvsp: ENST00000265368.4:c.25056C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8748C>T
  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.25056C>T
  hgvsp: ENST00000367255.5:c.25056C>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.24912C>T
  hgvsp: ENST00000448038.1:c.24912C>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.24912C>T
  hgvsp: ENST00000423061.1:c.24912C>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.23892C>T
  hgvsp: ENST00000341594.5:c.23892C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1670C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3891C>T
  hgvsp: ENST00000367251.3:c.3891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1521C>T
  hgvsp: ENST00000539504.1:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1590C>T
  hgvsp: ENST00000354674.4:c.1590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr8352Thr
num of homozygotes: 1
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

6-152464839-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464839
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464839
    reference: chr 6
allele count: 74148
allele frequency: 6.108950698655418e-1
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1572T>C
  hgvsp: ENST00000354674.4:c.1572T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3873T>C
  hgvsp: ENST00000367251.3:c.3873T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24894T>C
  hgvsp: ENST00000423061.1:c.24894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1503T>C
  hgvsp: ENST00000539504.1:c.1503T>C(p.%3D)
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1875T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.24894T>C
  hgvsp: ENST00000448038.1:c.24894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.23874T>C
  hgvsp: ENST00000341594.5:c.23874T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2976T>C
  hgvsp: ENST00000367257.4:c.2976T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.25038T>C
  hgvsp: ENST00000367255.5:c.25038T>C(p.%3D)
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8730T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.25038T>C
  hgvsp: ENST00000265368.4:c.25038T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8610T>C
  hgvsp: ENST00000356820.4:c.8610T>C(p.%3D)
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1786T>C
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4060T>C
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8622T>C
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1652T>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: 63
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 351
genotype quality: GenotypeQuality
hgvs: p.Arg8346Arg
num of homozygotes: 23222
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152464840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464840
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464840
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
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.23873G>A
  hgvsp: ENSP00000341887.5:p.Arg7958His
  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.24893G>A
  hgvsp: ENSP00000396024.1:p.Arg8298His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1502G>A
  hgvsp: ENSP00000441052.1:p.Arg501His
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8729G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8609G>A
  hgvsp: ENSP00000349276.4:p.Arg2870His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3872G>A
  hgvsp: ENSP00000356220.3:p.Arg1291His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1571G>A
  hgvsp: ENSP00000346701.4:p.Arg524His
  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.25037G>A
  hgvsp: ENSP00000265368.4:p.Arg8346His
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1785G>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.24893G>A
  hgvsp: ENSP00000390975.1:p.Arg8298His
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1651G>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.25037G>A
  hgvsp: ENSP00000356224.5:p.Arg8346His
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1874G>A
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8621G>A
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4059G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2975G>A
  hgvsp: ENSP00000356226.4:p.Arg992His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8346His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-152464841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464841
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464841
    reference: chr 6
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1501C>T
  hgvsp: ENSP00000441052.1:p.Arg501Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3871C>T
  hgvsp: ENSP00000356220.3:p.Arg1291Cys
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8620C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1650C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1873C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2974C>T
  hgvsp: ENSP00000356226.4:p.Arg992Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1570C>T
  hgvsp: ENSP00000346701.4:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8608C>T
  hgvsp: ENSP00000349276.4:p.Arg2870Cys
  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.24892C>T
  hgvsp: ENSP00000396024.1:p.Arg8298Cys
  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.25036C>T
  hgvsp: ENSP00000356224.5:p.Arg8346Cys
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1784C>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.23872C>T
  hgvsp: ENSP00000341887.5:p.Arg7958Cys
  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.24892C>T
  hgvsp: ENSP00000390975.1:p.Arg8298Cys
  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.25036C>T
  hgvsp: ENSP00000265368.4:p.Arg8346Cys
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4058C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8728C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8346Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

6-152464841-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464841
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464841
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1873C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8620C>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.24892C>G
  hgvsp: ENSP00000390975.1:p.Arg8298Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3871C>G
  hgvsp: ENSP00000356220.3:p.Arg1291Gly
  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.23872C>G
  hgvsp: ENSP00000341887.5:p.Arg7958Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1501C>G
  hgvsp: ENSP00000441052.1:p.Arg501Gly
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4058C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1650C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2974C>G
  hgvsp: ENSP00000356226.4:p.Arg992Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1570C>G
  hgvsp: ENSP00000346701.4:p.Arg524Gly
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8728C>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.24892C>G
  hgvsp: ENSP00000396024.1:p.Arg8298Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8608C>G
  hgvsp: ENSP00000349276.4:p.Arg2870Gly
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1784C>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.25036C>G
  hgvsp: ENSP00000265368.4:p.Arg8346Gly
  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.25036C>G
  hgvsp: ENSP00000356224.5:p.Arg8346Gly
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8346Gly
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

6-152464845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464845
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464845
    reference: chr 6
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24888T>C
  hgvsp: ENST00000423061.1:c.24888T>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.25032T>C
  hgvsp: ENST00000367255.5:c.25032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8604T>C
  hgvsp: ENST00000356820.4:c.8604T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8616T>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.25032T>C
  hgvsp: ENST00000265368.4:c.25032T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4054T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2970T>C
  hgvsp: ENST00000367257.4:c.2970T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1566T>C
  hgvsp: ENST00000354674.4:c.1566T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8724T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1497T>C
  hgvsp: ENST00000539504.1:c.1497T>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.24888T>C
  hgvsp: ENST00000448038.1:c.24888T>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.23868T>C
  hgvsp: ENST00000341594.5:c.23868T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1780T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1869T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1646T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3867T>C
  hgvsp: ENST00000367251.3:c.3867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp8344Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

6-152464847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464847
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464847
    reference: chr 6
allele count: 8
allele frequency: 6.589134517181169e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1495G>A
  hgvsp: ENSP00000441052.1:p.Asp499Asn
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1644G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3865G>A
  hgvsp: ENSP00000356220.3:p.Asp1289Asn
  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.24886G>A
  hgvsp: ENSP00000396024.1:p.Asp8296Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8602G>A
  hgvsp: ENSP00000349276.4:p.Asp2868Asn
  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.23866G>A
  hgvsp: ENSP00000341887.5:p.Asp7956Asn
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4052G>A
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8614G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2968G>A
  hgvsp: ENSP00000356226.4:p.Asp990Asn
  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.24886G>A
  hgvsp: ENSP00000390975.1:p.Asp8296Asn
  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.25030G>A
  hgvsp: ENSP00000356224.5:p.Asp8344Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1564G>A
  hgvsp: ENSP00000346701.4:p.Asp522Asn
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1867G>A
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1778G>A
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8722G>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.25030G>A
  hgvsp: ENSP00000265368.4:p.Asp8344Asn
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp8344Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-152464852-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464852
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464852
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1490T>C
  hgvsp: ENSP00000441052.1:p.Leu497Pro
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8609T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4047T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1862T>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.23861T>C
  hgvsp: ENSP00000341887.5:p.Leu7954Pro
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1639T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8597T>C
  hgvsp: ENSP00000349276.4:p.Leu2866Pro
  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.24881T>C
  hgvsp: ENSP00000390975.1:p.Leu8294Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2963T>C
  hgvsp: ENSP00000356226.4:p.Leu988Pro
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8717T>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.24881T>C
  hgvsp: ENSP00000396024.1:p.Leu8294Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3860T>C
  hgvsp: ENSP00000356220.3:p.Leu1287Pro
  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.25025T>C
  hgvsp: ENSP00000265368.4:p.Leu8342Pro
  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.25025T>C
  hgvsp: ENSP00000356224.5:p.Leu8342Pro
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1773T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1559T>C
  hgvsp: ENSP00000346701.4:p.Leu520Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu8342Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP

6-152464854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464854
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464854
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4045C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1771C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8607C>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.24879C>T
  hgvsp: ENST00000423061.1:c.24879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3858C>T
  hgvsp: ENST00000367251.3:c.3858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8595C>T
  hgvsp: ENST00000356820.4:c.8595C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1637C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1488C>T
  hgvsp: ENST00000539504.1:c.1488C>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.24879C>T
  hgvsp: ENST00000448038.1:c.24879C>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.25023C>T
  hgvsp: ENST00000367255.5:c.25023C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8715C>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.25023C>T
  hgvsp: ENST00000265368.4:c.25023C>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.23859C>T
  hgvsp: ENST00000341594.5:c.23859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1557C>T
  hgvsp: ENST00000354674.4:c.1557C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1860C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2961C>T
  hgvsp: ENST00000367257.4:c.2961C>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: 4641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala8341Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152464862-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464862
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464862
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.24871G>T
  hgvsp: ENSP00000396024.1:p.Gly8291Cys
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8599G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8587G>T
  hgvsp: ENSP00000349276.4:p.Gly2863Cys
  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.25015G>T
  hgvsp: ENSP00000356224.5:p.Gly8339Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3850G>T
  hgvsp: ENSP00000356220.3:p.Gly1284Cys
  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.23851G>T
  hgvsp: ENSP00000341887.5:p.Gly7951Cys
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8707G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1549G>T
  hgvsp: ENSP00000346701.4:p.Gly517Cys
  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.24871G>T
  hgvsp: ENSP00000390975.1:p.Gly8291Cys
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1629G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1480G>T
  hgvsp: ENSP00000441052.1:p.Gly494Cys
  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.25015G>T
  hgvsp: ENSP00000265368.4:p.Gly8339Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2953G>T
  hgvsp: ENSP00000356226.4:p.Gly985Cys
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1852G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4037G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1763G>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly8339Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

6-152464863-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464863
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464863
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1628G>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8598G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1548G>C
  hgvsp: ENST00000354674.4:c.1548G>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.25014G>C
  hgvsp: ENST00000265368.4:c.25014G>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.23850G>C
  hgvsp: ENST00000341594.5:c.23850G>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.24870G>C
  hgvsp: ENST00000423061.1:c.24870G>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.24870G>C
  hgvsp: ENST00000448038.1:c.24870G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8586G>C
  hgvsp: ENST00000356820.4:c.8586G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8706G>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.25014G>C
  hgvsp: ENST00000367255.5:c.25014G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3849G>C
  hgvsp: ENST00000367251.3:c.3849G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4036G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2952G>C
  hgvsp: ENST00000367257.4:c.2952G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1479G>C
  hgvsp: ENST00000539504.1:c.1479G>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1762G>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1851G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu8338Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

6-152464870-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464870
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464870
    reference: chr 6
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1755G>A
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1844G>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.24863G>A
  hgvsp: ENSP00000390975.1:p.Arg8288Gln
  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.25007G>A
  hgvsp: ENSP00000356224.5:p.Arg8336Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8579G>A
  hgvsp: ENSP00000349276.4:p.Arg2860Gln
  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.24863G>A
  hgvsp: ENSP00000396024.1:p.Arg8288Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3842G>A
  hgvsp: ENSP00000356220.3:p.Arg1281Gln
  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.25007G>A
  hgvsp: ENSP00000265368.4:p.Arg8336Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1472G>A
  hgvsp: ENSP00000441052.1:p.Arg491Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2945G>A
  hgvsp: ENSP00000356226.4:p.Arg982Gln
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8591G>A
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8699G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1541G>A
  hgvsp: ENSP00000346701.4:p.Arg514Gln
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4029G>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.23843G>A
  hgvsp: ENSP00000341887.5:p.Arg7948Gln
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1621G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8336Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

6-152464871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464871
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464871
    reference: chr 6
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1471C>T
  hgvsp: ENSP00000441052.1:p.Arg491Ter
  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.25006C>T
  hgvsp: ENSP00000265368.4:p.Arg8336Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.25006C>T
  hgvsp: ENSP00000356224.5:p.Arg8336Ter
  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.23842C>T
  hgvsp: ENSP00000341887.5:p.Arg7948Ter
  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.24862C>T
  hgvsp: ENSP00000396024.1:p.Arg8288Ter
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8590C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1540C>T
  hgvsp: ENSP00000346701.4:p.Arg514Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8578C>T
  hgvsp: ENSP00000349276.4:p.Arg2860Ter
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4028C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1754C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3841C>T
  hgvsp: ENSP00000356220.3:p.Arg1281Ter
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1620C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2944C>T
  hgvsp: ENSP00000356226.4:p.Arg982Ter
  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.24862C>T
  hgvsp: ENSP00000390975.1:p.Arg8288Ter
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8698C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1843C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg8336Ter
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/6-152464885-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464885
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464885
    reference: chr 6
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8684T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1740T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3827T>G
  hgvsp: ENSP00000356220.3:p.Leu1276Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8564T>G
  hgvsp: ENSP00000349276.4:p.Leu2855Arg
  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.23828T>G
  hgvsp: ENSP00000341887.5:p.Leu7943Arg
  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.24848T>G
  hgvsp: ENSP00000390975.1:p.Leu8283Arg
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4014T>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.24992T>G
  hgvsp: ENSP00000265368.4:p.Leu8331Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1526T>G
  hgvsp: ENSP00000346701.4:p.Leu509Arg
  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.24992T>G
  hgvsp: ENSP00000356224.5:p.Leu8331Arg
  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.24848T>G
  hgvsp: ENSP00000396024.1:p.Leu8283Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1457T>G
  hgvsp: ENSP00000441052.1:p.Leu486Arg
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1606T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8576T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1829T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2930T>G
  hgvsp: ENSP00000356226.4:p.Leu977Arg
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu8331Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152464886-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464886
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464886
    reference: chr 6
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
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.24991C>G
  hgvsp: ENSP00000356224.5:p.Leu8331Val
  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.23827C>G
  hgvsp: ENSP00000341887.5:p.Leu7943Val
  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.24991C>G
  hgvsp: ENSP00000265368.4:p.Leu8331Val
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1605C>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.24847C>G
  hgvsp: ENSP00000396024.1:p.Leu8283Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8563C>G
  hgvsp: ENSP00000349276.4:p.Leu2855Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1525C>G
  hgvsp: ENSP00000346701.4:p.Leu509Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3826C>G
  hgvsp: ENSP00000356220.3:p.Leu1276Val
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8575C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1456C>G
  hgvsp: ENSP00000441052.1:p.Leu486Val
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1739C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4013C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8683C>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.24847C>G
  hgvsp: ENSP00000390975.1:p.Leu8283Val
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1828C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2929C>G
  hgvsp: ENSP00000356226.4:p.Leu977Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu8331Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152464887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464887
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464887
    reference: chr 6
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1738C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8562C>G
  hgvsp: ENST00000356820.4:c.8562C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1455C>G
  hgvsp: ENST00000539504.1:c.1455C>G(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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1827C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8574C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3825C>G
  hgvsp: ENST00000367251.3:c.3825C>G(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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1604C>G
  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.24990C>G
  hgvsp: ENST00000367255.5:c.24990C>G(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.24846C>G
  hgvsp: ENST00000423061.1:c.24846C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2928C>G
  hgvsp: ENST00000367257.4:c.2928C>G(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.24846C>G
  hgvsp: ENST00000448038.1:c.24846C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1524C>G
  hgvsp: ENST00000354674.4:c.1524C>G(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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8682C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4012C>G
  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.23826C>G
  hgvsp: ENST00000341594.5:c.23826C>G(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.24990C>G
  hgvsp: ENST00000265368.4:c.24990C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala8330Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

6-152464892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464892
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464892
    reference: chr 6
allele count: 21
allele frequency: 1.729733291600086e-4
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2923A>G
  hgvsp: ENSP00000356226.4:p.Ser975Gly
  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.23821A>G
  hgvsp: ENSP00000341887.5:p.Ser7941Gly
  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.24985A>G
  hgvsp: ENSP00000265368.4:p.Ser8329Gly
  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.24985A>G
  hgvsp: ENSP00000356224.5:p.Ser8329Gly
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8569A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1733A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1519A>G
  hgvsp: ENSP00000346701.4:p.Ser507Gly
  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.24841A>G
  hgvsp: ENSP00000390975.1:p.Ser8281Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1450A>G
  hgvsp: ENSP00000441052.1:p.Ser484Gly
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8677A>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.24841A>G
  hgvsp: ENSP00000396024.1:p.Ser8281Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3820A>G
  hgvsp: ENSP00000356220.3:p.Ser1274Gly
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1599A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8557A>G
  hgvsp: ENSP00000349276.4:p.Ser2853Gly
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1822A>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4007A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser8329Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/6-152464899-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464899
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464899
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
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.24978G>T
  hgvsp: ENST00000367255.5:c.24978G>T(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.24834G>T
  hgvsp: ENST00000423061.1:c.24834G>T(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: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8550G>T
  hgvsp: ENST00000356820.4:c.8550G>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1592G>T
  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.24978G>T
  hgvsp: ENST00000265368.4:c.24978G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.4000G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1443G>T
  hgvsp: ENST00000539504.1:c.1443G>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1815G>T
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8562G>T
  variant of: http://identifiers.org/hgnc/17089
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.23814G>T
  hgvsp: ENST00000341594.5:c.23814G>T(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: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.24834G>T
  hgvsp: ENST00000448038.1:c.24834G>T(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: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1512G>T
  hgvsp: ENST00000354674.4:c.1512G>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8670G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2916G>T
  hgvsp: ENST00000367257.4:c.2916G>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
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1726G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3813G>T
  hgvsp: ENST00000367251.3:c.3813G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.24978G>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-152464904-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464904
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464904
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
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.24833-4G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-4G>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3995G>T
  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.23813-4G>T
  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.24977-4G>T
  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.24833-4G>T
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-4G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-4G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-4G>T
  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.24977-4G>T
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-4G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-4G>T
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-4G>T
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-4G>T
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-4G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-4G>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.24977-4G>T
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-152464904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464904
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464904
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-4G>A
  variant of: http://identifiers.org/hgnc/17089
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.24833-4G>A
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-4G>A
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-4G>A
  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.24833-4G>A
  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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-4G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-4G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-4G>A
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-4G>A
  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.23813-4G>A
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-4G>A
  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.24977-4G>A
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3995G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-4G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-4G>A
  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.24977-4G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.24977-4G>A
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-152464905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464905
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464905
    reference: chr 6
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-5C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-5C>T
  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.24977-5C>T
  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.24833-5C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-5C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-5C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-5C>T
  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.24977-5C>T
  variant of: http://identifiers.org/hgnc/17089
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.24833-5C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-5C>T
  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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-5C>T
  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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-5C>T
  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.23813-5C>T
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-5C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3994C>T
  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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-5C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.24977-5C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-152464909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464909
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464909
    reference: chr 6
allele count: 10
allele frequency: 8.237775141689732e-5
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-9C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-9C>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3990C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-9C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-9C>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.24977-9C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-9C>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.24833-9C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-9C>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.23813-9C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-9C>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.24977-9C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-9C>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.24833-9C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-9C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-9C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-152464917-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464917
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464917
    reference: chr 6
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-17T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-17T>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.24977-17T>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.24833-17T>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.24977-17T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-17T>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.23813-17T>A
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3982T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-17T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-17T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-17T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-17T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-17T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-17T>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.24833-17T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-17T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-152464929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464929
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464929
    reference: chr 6
allele count: 3
allele frequency: 2.471821237888076e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-29A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-29A>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3970A>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-29A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-29A>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.24977-29A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-29A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-29A>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.23813-29A>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.24833-29A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-29A>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.24833-29A>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.24977-29A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-29A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-29A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-29A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

6-152464939-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464939
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464939
    reference: chr 6
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-39T>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.23813-39T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-39T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-39T>A
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3960T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-39T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-39T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-39T>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.24977-39T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-39T>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.24833-39T>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.24977-39T>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.24833-39T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-39T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-39T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-39T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

6-152464947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464947
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464947
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-47A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-47A>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.23813-47A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-47A>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.24833-47A>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-47A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-47A>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.24833-47A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-47A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-47A>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3952A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-47A>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.24977-47A>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.24977-47A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-47A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-47A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

6-152464952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152464952
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152464952
    reference: chr 6
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1725-52T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3812-52T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-52T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.3947T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-52T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-52T>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.24977-52T>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.24833-52T>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.24977-52T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-52T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-52T>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.23813-52T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1511-52T>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.24833-52T>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1591-52T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-52T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

6-152466571-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152466571
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152466571
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 117480
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.24832+51C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-1671C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3811+51C>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.24832+51C>A
  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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.2328C>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.24977-1671C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-1671C>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-1671C>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-1671C>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.23813-1671C>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1590+51C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1510+51C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-1671C>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1724+51C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-1671C>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.24977-1671C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-152466574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152466574
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152466574
    reference: chr 6
allele count: 1
allele frequency: 8.520500323779012e-6
allele num: 117364
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.24832+48A>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.24977-1674A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-1674A>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-1674A>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-1674A>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1724+48A>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.2325A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1510+48A>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.23813-1674A>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.24832+48A>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: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1590+48A>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-1674A>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.24977-1674A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3811+48A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-1674A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-1674A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-152466578-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152466578
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152466578
    reference: chr 6
allele count: 3782
allele frequency: 3.210689848379374e-2
allele num: 117794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000460912
  gene symbol: SYNE1
  hgvsc: ENST00000460912.2:n.1590+44T>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: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.8561-1678T>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.24832+44T>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.24977-1678T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000441052
  ensembl transcript: ENST00000539504
  gene symbol: SYNE1
  hgvsc: ENST00000539504.1:c.1442-1678T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.3811+44T>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: ENST00000478916
  gene symbol: SYNE1
  hgvsc: ENST00000478916.1:n.2321T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000346701
  ensembl transcript: ENST00000354674
  gene symbol: SYNE1
  hgvsc: ENST00000354674.4:c.1510+44T>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.23813-1678T>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.24832+44T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.8669-1678T>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: ENST00000536990
  gene symbol: SYNE1
  hgvsc: ENST00000536990.1:n.1814-1678T>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: ENST00000347037
  gene symbol: SYNE1
  hgvsc: ENST00000347037.5:n.1724+44T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.8549-1678T>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.24977-1678T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356226
  ensembl transcript: ENST00000367257
  gene symbol: SYNE1
  hgvsc: ENST00000367257.4:c.2915-1678T>G
  variant of: http://identifiers.org/hgnc/17089
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 28
num of homozygotes: 234
reference allele: A

GenotypeDepth
all individuals: 2160
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1490
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7158
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3483
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6690
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6948
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4070
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 984
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2783
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4701
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1761
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39641
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
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: 8642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.301948e6

FS
type: SiteQuality
SIO_000300: 3.314e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.375e0

GenotypeDepth
all individuals: 407
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4071
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5552
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3049
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39638
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 187
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 3.297466e6

MQ
type: SiteQuality
SIO_000300: 5.483e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.524e0

FS
type: SiteQuality
SIO_000300: 3.299e0

MQRankSum
type: SiteQuality
SIO_000300: -6.748e0

VQSLOD
type: SiteQuality
SIO_000300: -5.829e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeDepth
all individuals: 6689
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3049
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6934
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4071
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39636
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 3.296129e6

MQRankSum
type: SiteQuality
SIO_000300: -6.755e0

FS
type: SiteQuality
SIO_000300: 1.603e0

MQ
type: SiteQuality
SIO_000300: 5.456e1

QD
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.959e-1

GenotypeDepth
all individuals: 1490
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5076
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6689
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5553
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4289
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.143e0

DP
type: SiteQuality
SIO_000300: 3.295013e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -6.576e0

QD
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 6.724e0

MQ
type: SiteQuality
SIO_000300: 5.482e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

GenotypeDepth
all individuals: 677
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5553
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2160
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3049
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6689
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.29317e6

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
SIO_000300: 5.866e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.689e0

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeDepth
all individuals: 93
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4959
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4238
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6689
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1490
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6090
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5553
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39636
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 356
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3466
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 6.25e1
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: 5
allele frequency: 3.029935765361775e-4
allele num: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

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

FS
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SIO_000300: 1.543e0

ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-4

DP
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SIO_000300: 3.290738e6

QD
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BaseQRankSum
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SIO_000300: 6.3e-2

MQ
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SIO_000300: 6.009e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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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allele frequency: 1.042873696407879e-3
allele num: 8630
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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QD
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VQSLOD
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MQ
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FS
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ClippingRankSum
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SIO_000300: -1.38e-1

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

South Asian
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allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.913187026607108e-4
allele num: 10298
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.286345e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 1.68e0

MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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MQRankSum
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QD
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SIO_000300: 1.376e1

ClippingRankSum
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SIO_000300: -3.67e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 908
num of homozygotes: 0

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

Latino
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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 count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

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

DP
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MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: 8.179999999999999e-1

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

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

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

African
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Other
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

South Asian
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allele num: 16512
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Other
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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: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.19871737241152e-4
allele num: 66738
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.469e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.006e0

DP
type: SiteQuality
SIO_000300: 5.230868e6

GenotypeDepth
all individuals: 2911
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1999
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1555
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variant carriers: 0

GenotypeDepth
all individuals: 4505
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variant carriers: 6

GenotypeDepth
all individuals: 4220
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variant carriers: 6

GenotypeDepth
all individuals: 2459
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variant carriers: 2

GenotypeDepth
all individuals: 20053
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variant carriers: 71

GenotypeDepth
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variant carriers: 4

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56263
bin: 9.75e1
variant carriers: 106

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 104
allele frequency: 6.298449612403101e-3
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 5.23439e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.94e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 894
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 763
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56263
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

DP
type: SiteQuality
SIO_000300: 5.234845e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.7551e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.953e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeDepth
all individuals: 85
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4725
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variant carriers: 0

GenotypeDepth
all individuals: 2912
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variant carriers: 0

GenotypeDepth
all individuals: 20060
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variant carriers: 4

GenotypeDepth
all individuals: 1999
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variant carriers: 0

GenotypeDepth
all individuals: 1555
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variant carriers: 0

GenotypeDepth
all individuals: 4217
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variant carriers: 0

GenotypeDepth
all individuals: 1218
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variant carriers: 0

GenotypeDepth
all individuals: 4503
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 698
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 763
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variant carriers: 0

GenotypeQuality
all individuals: 700
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variant carriers: 0

GenotypeQuality
all individuals: 892
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56263
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.235036e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

QD
type: SiteQuality
SIO_000300: 1.176e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 2.233e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

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

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 86
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variant carriers: 0

GenotypeDepth
all individuals: 1218
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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
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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: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

MQ
type: SiteQuality
SIO_000300: 6.03e1

FS
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

DP
type: SiteQuality
SIO_000300: 5.235012e6

GenotypeDepth
all individuals: 1555
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variant carriers: 0

GenotypeDepth
all individuals: 3551
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variant carriers: 0

GenotypeDepth
all individuals: 2457
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.222e-1

MQRankSum
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BaseQRankSum
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SIO_000300: -3.722e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.235038e6

FS
type: SiteQuality
SIO_000300: 3.647e0

ClippingRankSum
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SIO_000300: -2.143e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.482e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 701
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Latino
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European (Finnish)
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East Asian
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allele frequency: 9.244280101687081e-4
allele num: 8654
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South Asian
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -8.34e-1

FS
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SIO_000300: 5.89e-1

DP
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SIO_000300: 5.235938e6

MQ
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SIO_000300: 5.966e1

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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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Latino
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 6.229e0

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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allele count: 0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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DP
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ReadPosRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 2

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

European (Finnish)
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num of homozygotes: 0

Other
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
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SIO_000300: 3.91e-1

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
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DP
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SIO_000300: 5.236146e6

MQRankSum
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SIO_000300: 5.669999999999999e-1

QD
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SIO_000300: 1.416e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 378
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variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498351813005694e-4
allele num: 66740
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 2.72e-1

MQ
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SIO_000300: 5.949e1

DP
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SIO_000300: 5.237166e6

ClippingRankSum
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SIO_000300: -5.55e-1

MQRankSum
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SIO_000300: -1.27e-1

BaseQRankSum
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SIO_000300: 1.57e0

InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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SIO_000300: 1.41e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 4.18e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 183
allele frequency: 2.74198381780042e-3
allele num: 66740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 26
allele frequency: 3.931055337163592e-3
allele num: 6614
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 1.78e0

InbreedingCoeff
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SIO_000300: -1.9e-3

VQSLOD
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SIO_000300: 4.56e0

MQRankSum
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SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
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SIO_000300: -2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.306e1

DP
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SIO_000300: 5.254503e6

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
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BaseQRankSum
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SIO_000300: 1.95e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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DP
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FS
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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DP
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SIO_000300: 5.23781e6

QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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ClippingRankSum
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SIO_000300: -5.92e-1

QD
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 9.350000000000001e-1

DP
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SIO_000300: 5.238019e6

GenotypeDepth
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variant carriers: 0

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

BaseQRankSum
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SIO_000300: 9.350000000000001e-1

ClippingRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

DP
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SIO_000300: 5.238019e6

MQRankSum
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SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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BaseQRankSum
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SIO_000300: -1.675e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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FS
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ClippingRankSum
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QD
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MQ
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SIO_000300: 5.871e1

ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66740
num of homozygotes: 0

South Asian
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European (Finnish)
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East Asian
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
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SIO_000300: 3.58e-1

DP
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SIO_000300: 5.239313e6

BaseQRankSum
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SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeDepth
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variant carriers: 46

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
all individuals: 1126
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variant carriers: 14

GenotypeDepth
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variant carriers: 75

GenotypeDepth
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variant carriers: 943

GenotypeDepth
all individuals: 1665
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variant carriers: 1517

GenotypeDepth
all individuals: 912
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variant carriers: 667

GenotypeDepth
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variant carriers: 1292

GenotypeDepth
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GenotypeDepth
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variant carriers: 43264

GenotypeDepth
all individuals: 1988
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variant carriers: 1841

GenotypeDepth
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variant carriers: 216

GenotypeDepth
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variant carriers: 18

GenotypeDepth
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variant carriers: 536

GenotypeQuality
all individuals: 331
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 50915

GenotypeQuality
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GenotypeQuality
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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
all individuals: 3
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variant carriers: 0

East Asian
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allele count: 6049
allele frequency: 7.002778420930771e-1
allele num: 8638
num of homozygotes: 2110

African
type: Population
allele count: 7880
allele frequency: 7.572554295598694e-1
allele num: 10406
num of homozygotes: 3002

European (Non-Finnish)
type: Population
allele count: 36579
allele frequency: 5.481478151411616e-1
allele num: 66732
num of homozygotes: 10072

European (Finnish)
type: Population
allele count: 3260
allele frequency: 4.930429522081065e-1
allele num: 6612
num of homozygotes: 801

South Asian
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allele count: 11395
allele frequency: 6.901041666666666e-1
allele num: 16512
num of homozygotes: 3969

Latino
type: Population
allele count: 8434
allele frequency: 7.290802213001383e-1
allele num: 11568
num of homozygotes: 3089

Other
type: Population
allele count: 551
allele frequency: 6.068281938325991e-1
allele num: 908
num of homozygotes: 179

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
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SIO_000300: 9.7e-2

BaseQRankSum
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SIO_000300: 4.65e0

InbreedingCoeff
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SIO_000300: 3.75e-2

QD
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SIO_000300: 2.463e1

DP
type: SiteQuality
SIO_000300: 7.641983e6

FS
type: SiteQuality
SIO_000300: 1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4170
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.223489e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.86e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
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SIO_000300: 5.659999999999999e-1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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VQSLOD
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SIO_000300: 2.27e0

MQ
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SIO_000300: 5.96e1

QD
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SIO_000300: 8.92e0

ReadPosRankSum
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SIO_000300: 4.26e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495055439017081e-5
allele num: 66740
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQ
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VQSLOD
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 5.52e0

GenotypeDepth
all individuals: 1090
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 6

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

DP
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MQ
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MQRankSum
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SIO_000300: -9.7e-2

ReadPosRankSum
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SIO_000300: 3.2e-2

ClippingRankSum
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FS
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SIO_000300: 9.617000000000001e0

BaseQRankSum
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SIO_000300: -1.063e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.471e0

QD
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SIO_000300: 2.461e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

South Asian
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allele num: 16512
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MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.971e1

InbreedingCoeff
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FS
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VQSLOD
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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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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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

MQ
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SIO_000300: 6.0e1

QD
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FS
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 3.221119e6

VQSLOD
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SIO_000300: 9.47e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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ClippingRankSum
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SIO_000300: -4.5e-2

GenotypeDepth
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variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 21

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.729771285796656e-3
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66738
num of homozygotes: 0

African
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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variant carriers: 0

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

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