14-64685196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685196
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685196
    reference: chr 14
allele count: 4
allele frequency: 3.322038402763936e-5
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.247C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16492G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19623C>T
  hgvsp: ENST00000358025.3:c.19623C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-730C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1188C>T
  hgvsp: ENST00000555022.1:c.1188C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.903C>T
  hgvsp: ENST00000554805.1:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1333C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.147C>T
  hgvsp: ENST00000441438.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19554C>T
  hgvsp: ENST00000344113.4:c.19554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.525C>T
  hgvsp: ENST00000458046.2:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8709C>T
  hgvsp: ENST00000357395.3:c.8709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9525C>T
  hgvsp: ENST00000555002.1:c.9525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8709C>T
  hgvsp: ENST00000394768.2:c.8709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16492G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*365C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1429C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp6541Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-64685197-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685197
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685197
    reference: chr 14
allele count: 6
allele frequency: 4.983471486237313e-5
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1189G>T
  hgvsp: ENSP00000451009.1:p.Gly397Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19624G>T
  hgvsp: ENSP00000350719.3:p.Gly6542Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19555G>T
  hgvsp: ENSP00000341781.4:p.Gly6519Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-729G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16491C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16491C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*366G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1430G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9526G>T
  hgvsp: ENSP00000450831.1:p.Gly3176Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8710G>T
  hgvsp: ENSP00000349969.3:p.Gly2904Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.904G>T
  hgvsp: ENSP00000450605.1:p.Gly302Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.248G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.148G>T
  hgvsp: ENSP00000396794.2:p.Gly50Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1334G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8710G>T
  hgvsp: ENSP00000378249.2:p.Gly2904Trp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.526G>T
  hgvsp: ENSP00000391937.2:p.Gly176Trp
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6542Trp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

14-64685198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685198
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685198
    reference: chr 14
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9527G>A
  hgvsp: ENSP00000450831.1:p.Gly3176Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.149G>A
  hgvsp: ENSP00000396794.2:p.Gly50Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*367G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1190G>A
  hgvsp: ENSP00000451009.1:p.Gly397Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19556G>A
  hgvsp: ENSP00000341781.4:p.Gly6519Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1431G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16490C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.905G>A
  hgvsp: ENSP00000450605.1:p.Gly302Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19625G>A
  hgvsp: ENSP00000350719.3:p.Gly6542Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8711G>A
  hgvsp: ENSP00000349969.3:p.Gly2904Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.527G>A
  hgvsp: ENSP00000391937.2:p.Gly176Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1335G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8711G>A
  hgvsp: ENSP00000378249.2:p.Gly2904Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-728G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16490C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.249G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6542Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-64685199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685199
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685199
    reference: chr 14
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8712G>A
  hgvsp: ENST00000394768.2:c.8712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1432G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.150G>A
  hgvsp: ENST00000441438.2:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1191G>A
  hgvsp: ENST00000555022.1:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1336G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9528G>A
  hgvsp: ENST00000555002.1:c.9528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16489C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19626G>A
  hgvsp: ENST00000358025.3:c.19626G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8712G>A
  hgvsp: ENST00000357395.3:c.8712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*368G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.528G>A
  hgvsp: ENST00000458046.2:c.528G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19557G>A
  hgvsp: ENST00000344113.4:c.19557G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.250G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-727G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16489C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.906G>A
  hgvsp: ENST00000554805.1:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6542Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum

14-64685201-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685201
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685201
    reference: chr 14
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.152G>T
  hgvsp: ENSP00000396794.2:p.Gly51Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19559G>T
  hgvsp: ENSP00000341781.4:p.Gly6520Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8714G>T
  hgvsp: ENSP00000349969.3:p.Gly2905Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19628G>T
  hgvsp: ENSP00000350719.3:p.Gly6543Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8714G>T
  hgvsp: ENSP00000378249.2:p.Gly2905Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9530G>T
  hgvsp: ENSP00000450831.1:p.Gly3177Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16487C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-725G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.530G>T
  hgvsp: ENSP00000391937.2:p.Gly177Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1338G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.908G>T
  hgvsp: ENSP00000450605.1:p.Gly303Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1193G>T
  hgvsp: ENSP00000451009.1:p.Gly398Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*370G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.252G>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16487C>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1434G>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly6543Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

14-64685207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685207
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685207
    reference: chr 14
allele count: 3
allele frequency: 2.497169874142639e-5
allele num: 120136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8720C>T
  hgvsp: ENSP00000349969.3:p.Ala2907Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19634C>T
  hgvsp: ENSP00000350719.3:p.Ala6545Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1344C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9536C>T
  hgvsp: ENSP00000450831.1:p.Ala3179Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.914C>T
  hgvsp: ENSP00000450605.1:p.Ala305Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.158C>T
  hgvsp: ENSP00000396794.2:p.Ala53Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*376C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1199C>T
  hgvsp: ENSP00000451009.1:p.Ala400Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19565C>T
  hgvsp: ENSP00000341781.4:p.Ala6522Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-719C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.536C>T
  hgvsp: ENSP00000391937.2:p.Ala179Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.258C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1440C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16481G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8720C>T
  hgvsp: ENSP00000378249.2:p.Ala2907Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16481G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6545Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-64685208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685208
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685208
    reference: chr 14
allele count: 5
allele frequency: 4.162296255598289e-5
allele num: 120126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*377C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.159C>T
  hgvsp: ENST00000441438.2:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.259C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19635C>T
  hgvsp: ENST00000358025.3:c.19635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19566C>T
  hgvsp: ENST00000344113.4:c.19566C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16480G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8721C>T
  hgvsp: ENST00000357395.3:c.8721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.915C>T
  hgvsp: ENST00000554805.1:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9537C>T
  hgvsp: ENST00000555002.1:c.9537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.537C>T
  hgvsp: ENST00000458046.2:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8721C>T
  hgvsp: ENST00000394768.2:c.8721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1200C>T
  hgvsp: ENST00000555022.1:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1345C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-718C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1441C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16480G>A
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala6545Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

14-64685209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685209
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685209
    reference: chr 14
allele count: 36
allele frequency: 2.99785153972986e-4
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1201G>A
  hgvsp: ENSP00000451009.1:p.Gly401Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1346G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16479C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.538G>A
  hgvsp: ENSP00000391937.2:p.Gly180Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.260G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9538G>A
  hgvsp: ENSP00000450831.1:p.Gly3180Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.160G>A
  hgvsp: ENSP00000396794.2:p.Gly54Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1442G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19636G>A
  hgvsp: ENSP00000350719.3:p.Gly6546Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19567G>A
  hgvsp: ENSP00000341781.4:p.Gly6523Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8722G>A
  hgvsp: ENSP00000349969.3:p.Gly2908Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*378G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.916G>A
  hgvsp: ENSP00000450605.1:p.Gly306Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16479C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8722G>A
  hgvsp: ENSP00000378249.2:p.Gly2908Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-717G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly6546Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

14-64685212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685212
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685212
    reference: chr 14
allele count: 1640
allele frequency: 1.367122374124708e-2
allele num: 119960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.919A>G
  hgvsp: ENSP00000450605.1:p.Ile307Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19639A>G
  hgvsp: ENSP00000350719.3:p.Ile6547Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8725A>G
  hgvsp: ENSP00000349969.3:p.Ile2909Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9541A>G
  hgvsp: ENSP00000450831.1:p.Ile3181Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16476T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*381A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1445A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.163A>G
  hgvsp: ENSP00000396794.2:p.Ile55Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-714A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19570A>G
  hgvsp: ENSP00000341781.4:p.Ile6524Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1204A>G
  hgvsp: ENSP00000451009.1:p.Ile402Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.541A>G
  hgvsp: ENSP00000391937.2:p.Ile181Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.263A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1349A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8725A>G
  hgvsp: ENSP00000378249.2:p.Ile2909Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16476T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 5.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33042
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 126
genotype quality: GenotypeQuality
hgvs: p.Ile6547Val
num of homozygotes: 24
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-64685225-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685225
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685225
    reference: chr 14
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9554A>G
  hgvsp: ENSP00000450831.1:p.Gln3185Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1458A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.554A>G
  hgvsp: ENSP00000391937.2:p.Gln185Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8738A>G
  hgvsp: ENSP00000378249.2:p.Gln2913Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1217A>G
  hgvsp: ENSP00000451009.1:p.Gln406Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.276A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.176A>G
  hgvsp: ENSP00000396794.2:p.Gln59Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*394A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.932A>G
  hgvsp: ENSP00000450605.1:p.Gln311Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8738A>G
  hgvsp: ENSP00000349969.3:p.Gln2913Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-701A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16463T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19583A>G
  hgvsp: ENSP00000341781.4:p.Gln6528Arg
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1362A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16463T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19652A>G
  hgvsp: ENSP00000350719.3:p.Gln6551Arg
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln6551Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

14-64685226-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685226
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685226
    reference: chr 14
allele count: 6
allele frequency: 5.03389489227465e-5
allele num: 119192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8739G>C
  hgvsp: ENSP00000349969.3:p.Gln2913His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19653G>C
  hgvsp: ENSP00000350719.3:p.Gln6551His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.933G>C
  hgvsp: ENSP00000450605.1:p.Gln311His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1459G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-700G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16462C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.277G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.177G>C
  hgvsp: ENSP00000396794.2:p.Gln59His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.555G>C
  hgvsp: ENSP00000391937.2:p.Gln185His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19584G>C
  hgvsp: ENSP00000341781.4:p.Gln6528His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*395G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16462C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9555G>C
  hgvsp: ENSP00000450831.1:p.Gln3185His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8739G>C
  hgvsp: ENSP00000378249.2:p.Gln2913His
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1363G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1218G>C
  hgvsp: ENSP00000451009.1:p.Gln406His
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln6551His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

14-64685236-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685236
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685236
    reference: chr 14
allele count: 7
allele frequency: 5.925374145053159e-5
allele num: 118136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-690G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16452C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16452C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+6G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+6G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.19657+6G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

14-64685240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685240
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685240
    reference: chr 14
allele count: 10
allele frequency: 8.519048592653172e-5
allele num: 117384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-686G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16448C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+10G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16448C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+10G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

14-64685249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685249
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685249
    reference: chr 14
allele count: 1
allele frequency: 8.619352169490942e-6
allele num: 116018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-677A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16439T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16439T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+19A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+19A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

14-64685251-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685251
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685251
    reference: chr 14
allele count: 1
allele frequency: 8.624258313785014e-6
allele num: 115952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16437A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16437A>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+21T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-675T>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+21T>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

14-64685252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685252
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685252
    reference: chr 14
allele count: 3
allele frequency: 2.593719739936367e-5
allele num: 115664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16436G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-674C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16436G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+22C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+22C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

14-64685253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685253
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685253
    reference: chr 14
allele count: 2
allele frequency: 1.734033883022074e-5
allele num: 115338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-673G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16435C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+23G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16435C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+23G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

14-64685257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685257
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685257
    reference: chr 14
allele count: 2
allele frequency: 1.742403122386395e-5
allele num: 114784
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16431T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16431T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-669A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+27A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+27A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

14-64685260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685260
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685260
    reference: chr 14
allele count: 1
allele frequency: 8.722045843072952e-6
allele num: 114652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-666G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16428C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+30G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16428C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+30G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

14-64685262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685262
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685262
    reference: chr 14
allele count: 1
allele frequency: 8.771929824561403e-6
allele num: 114000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-664G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16426C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16426C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+32G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+32G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

14-64685265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685265
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685265
    reference: chr 14
allele count: 1
allele frequency: 8.801112460615022e-6
allele num: 113622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-661A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16423T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16423T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+35A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+35A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-64685278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685278
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685278
    reference: chr 14
allele count: 2
allele frequency: 1.828320687448578e-5
allele num: 109390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16410A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-648T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16410A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+48T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+48T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

14-64685282-T-TTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685282
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685284
    reference: chr 14
allele count: 1
allele frequency: 9.284706231894823e-6
allele num: 107704
alternate allele: TTA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19657+52_19657+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+16405_1406+16406insTA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.937+52_937+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.281+52_281+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1367+52_*1367+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*399+52_*399+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.559+52_559+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8743+52_8743+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.181+52_181+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1463+52_*1463+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1222+52_1222+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*16405_*16406insTA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-644_19337-643insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8743+52_8743+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19588+52_19588+53insTA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9559+52_9559+53insTA
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

14-64685887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685887
    reference: chr 14
allele count: 1
allele frequency: 9.020711553727359e-6
allele num: 110856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15801G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15801G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-39C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-39C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-64685887-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685884
    reference: chr 14
allele count: 1
allele frequency: 9.020711553727359e-6
allele num: 110856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-35_*1368-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-35_*400-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-35_938-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15798_*15800delAAT
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-35_282-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-35_19337-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-35_19658-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-35_182-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-35_9560-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-35_19589-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-35_1223-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-35_*1464-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15798_1406+15800delAAT
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-35_560-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-35_8744-33delATT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-35_8744-33delATT
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26138
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: CATT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

14-64685889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685889
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685889
    reference: chr 14
allele count: 1
allele frequency: 8.986663790934254e-6
allele num: 111276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15799A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15799A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-37T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-37T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

14-64685892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685892
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685892
    reference: chr 14
allele count: 2
allele frequency: 1.792468049257022e-5
allele num: 111578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15796A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15796A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-34T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-34T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-64685895-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685896
    reference: chr 14
allele count: 2
allele frequency: 1.79426910448029e-5
allele num: 111466
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15792dupA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15792dupA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-24dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-24dupT
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

14-64685895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685895
    reference: chr 14
allele count: 1
allele frequency: 8.971345522401449e-6
allele num: 111466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15793G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15793G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-31C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-31C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

14-64685895-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685895
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685894
    reference: chr 14
allele count: 4
allele frequency: 3.58853820896058e-5
allele num: 111466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15792delA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-24delT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15792delA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-24delT
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31214
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: CT
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

14-64685897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685897
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685897
    reference: chr 14
allele count: 1
allele frequency: 8.900281248887465e-6
allele num: 112356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15791A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-29T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15791A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-29T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

14-64685904-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685904
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685904
    reference: chr 14
allele count: 1
allele frequency: 8.738814317673378e-6
allele num: 114432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15784T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15784T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-22A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-22A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

14-64685905-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685905
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685905
    reference: chr 14
allele count: 7
allele frequency: 6.107882658848577e-5
allele num: 114606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15783A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15783A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-21T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-21T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

14-64685909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685909
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685909
    reference: chr 14
allele count: 7
allele frequency: 6.067750771471169e-5
allele num: 115364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15779G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15779G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-17C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-17C>T
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  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: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

14-64685910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685910
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685910
    reference: chr 14
allele count: 1
allele frequency: 8.641100530563572e-6
allele num: 115726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15778C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15778C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-16G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-16G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

14-64685911-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685912
    reference: chr 14
allele count: 4
allele frequency: 3.452263822001277e-5
allele num: 115866
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15776dupA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15776dupA
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-9dupT
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-9dupT
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

14-64685911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685911
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685911
    reference: chr 14
allele count: 2
allele frequency: 1.726131911000639e-5
allele num: 115866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15777T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-15A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15777T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-15A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-64685917-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685917
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685918
    reference: chr 14
allele count: 1
allele frequency: 8.568686591719221e-6
allele num: 116704
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1223-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1368-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8744-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*400-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19589-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15770dupT
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.938-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.282-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1464-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8744-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15770dupT
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.560-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19658-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.182-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19337-7dupA
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9560-7dupA
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/14-64685929-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685929
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685929
    reference: chr 14
allele count: 6
allele frequency: 5.049229992426155e-5
allele num: 118830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19661C>A
  hgvsp: ENSP00000350719.3:p.Ala6554Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*403C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1226C>A
  hgvsp: ENSP00000451009.1:p.Ala409Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1371C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.941C>A
  hgvsp: ENSP00000450605.1:p.Ala314Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1467C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.285C>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.563C>A
  hgvsp: ENSP00000391937.2:p.Ala188Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8747C>A
  hgvsp: ENSP00000349969.3:p.Ala2916Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.185C>A
  hgvsp: ENSP00000396794.2:p.Ala62Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15759G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19592C>A
  hgvsp: ENSP00000341781.4:p.Ala6531Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9563C>A
  hgvsp: ENSP00000450831.1:p.Ala3188Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19340C>A
  hgvsp: ENSP00000452570.1:p.Ala6447Asp
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15759G>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8747C>A
  hgvsp: ENSP00000378249.2:p.Ala2916Asp
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6554Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-64685934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685934
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685934
    reference: chr 14
allele count: 1
allele frequency: 8.383916294979712e-6
allele num: 119276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15754C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1376G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15754C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19597G>A
  hgvsp: ENSP00000341781.4:p.Asp6533Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8752G>A
  hgvsp: ENSP00000349969.3:p.Asp2918Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.568G>A
  hgvsp: ENSP00000391937.2:p.Asp190Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19345G>A
  hgvsp: ENSP00000452570.1:p.Asp6449Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.190G>A
  hgvsp: ENSP00000396794.2:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19666G>A
  hgvsp: ENSP00000350719.3:p.Asp6556Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9568G>A
  hgvsp: ENSP00000450831.1:p.Asp3190Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1472G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.290G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.946G>A
  hgvsp: ENSP00000450605.1:p.Asp316Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1231G>A
  hgvsp: ENSP00000451009.1:p.Asp411Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8752G>A
  hgvsp: ENSP00000378249.2:p.Asp2918Asn
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*408G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp6556Asn
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

14-64685943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685943
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685943
    reference: chr 14
allele count: 2
allele frequency: 1.666472244904761e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9577G>A
  hgvsp: ENSP00000450831.1:p.Glu3193Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*417G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8761G>A
  hgvsp: ENSP00000378249.2:p.Glu2921Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19354G>A
  hgvsp: ENSP00000452570.1:p.Glu6452Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1240G>A
  hgvsp: ENSP00000451009.1:p.Glu414Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.199G>A
  hgvsp: ENSP00000396794.2:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8761G>A
  hgvsp: ENSP00000349969.3:p.Glu2921Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19675G>A
  hgvsp: ENSP00000350719.3:p.Glu6559Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1385G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15745C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.577G>A
  hgvsp: ENSP00000391937.2:p.Glu193Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.299G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19606G>A
  hgvsp: ENSP00000341781.4:p.Glu6536Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1481G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15745C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.955G>A
  hgvsp: ENSP00000450605.1:p.Glu319Lys
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu6559Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

14-64685945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685945
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685945
    reference: chr 14
allele count: 1
allele frequency: 8.325008325008325e-6
allele num: 120120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.579G>A
  hgvsp: ENST00000458046.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.957G>A
  hgvsp: ENST00000554805.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.201G>A
  hgvsp: ENST00000441438.2:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1483G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19677G>A
  hgvsp: ENST00000358025.3:c.19677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19356G>A
  hgvsp: ENST00000554584.1:c.19356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8763G>A
  hgvsp: ENST00000394768.2:c.8763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1387G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1242G>A
  hgvsp: ENST00000555022.1:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15743C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19608G>A
  hgvsp: ENST00000344113.4:c.19608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15743C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8763G>A
  hgvsp: ENST00000357395.3:c.8763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9579G>A
  hgvsp: ENST00000555002.1:c.9579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.301G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*419G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu6559Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

14-64685949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685949
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685949
    reference: chr 14
allele count: 2
allele frequency: 1.66333998669328e-5
allele num: 120240
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19681A>G
  hgvsp: ENSP00000350719.3:p.Ile6561Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.205A>G
  hgvsp: ENSP00000396794.2:p.Ile69Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1487A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19360A>G
  hgvsp: ENSP00000452570.1:p.Ile6454Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8767A>G
  hgvsp: ENSP00000378249.2:p.Ile2923Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15739T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15739T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9583A>G
  hgvsp: ENSP00000450831.1:p.Ile3195Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.305A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19612A>G
  hgvsp: ENSP00000341781.4:p.Ile6538Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.961A>G
  hgvsp: ENSP00000450605.1:p.Ile321Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*423A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.583A>G
  hgvsp: ENSP00000391937.2:p.Ile195Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1246A>G
  hgvsp: ENSP00000451009.1:p.Ile416Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1391A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8767A>G
  hgvsp: ENSP00000349969.3:p.Ile2923Val
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile6561Val
num of homozygotes: 1
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

14-64685952-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685952
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685952
    reference: chr 14
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19615C>G
  hgvsp: ENSP00000341781.4:p.Gln6539Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1249C>G
  hgvsp: ENSP00000451009.1:p.Gln417Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15736G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.308C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15736G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9586C>G
  hgvsp: ENSP00000450831.1:p.Gln3196Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.964C>G
  hgvsp: ENSP00000450605.1:p.Gln322Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8770C>G
  hgvsp: ENSP00000349969.3:p.Gln2924Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1490C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19363C>G
  hgvsp: ENSP00000452570.1:p.Gln6455Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*426C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.586C>G
  hgvsp: ENSP00000391937.2:p.Gln196Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.208C>G
  hgvsp: ENSP00000396794.2:p.Gln70Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19684C>G
  hgvsp: ENSP00000350719.3:p.Gln6562Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1394C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8770C>G
  hgvsp: ENSP00000378249.2:p.Gln2924Glu
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln6562Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-64685953-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685953
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685953
    reference: chr 14
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8771A>C
  hgvsp: ENSP00000378249.2:p.Gln2924Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8771A>C
  hgvsp: ENSP00000349969.3:p.Gln2924Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.209A>C
  hgvsp: ENSP00000396794.2:p.Gln70Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.965A>C
  hgvsp: ENSP00000450605.1:p.Gln322Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19685A>C
  hgvsp: ENSP00000350719.3:p.Gln6562Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.309A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19616A>C
  hgvsp: ENSP00000341781.4:p.Gln6539Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15735T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1491A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9587A>C
  hgvsp: ENSP00000450831.1:p.Gln3196Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1250A>C
  hgvsp: ENSP00000451009.1:p.Gln417Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*427A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.587A>C
  hgvsp: ENSP00000391937.2:p.Gln196Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15735T>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1395A>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19364A>C
  hgvsp: ENSP00000452570.1:p.Gln6455Pro
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln6562Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-64685955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685955
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685955
    reference: chr 14
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.967G>C
  hgvsp: ENSP00000450605.1:p.Ala323Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*429G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1397G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19687G>C
  hgvsp: ENSP00000350719.3:p.Ala6563Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1252G>C
  hgvsp: ENSP00000451009.1:p.Ala418Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19618G>C
  hgvsp: ENSP00000341781.4:p.Ala6540Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8773G>C
  hgvsp: ENSP00000378249.2:p.Ala2925Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.211G>C
  hgvsp: ENSP00000396794.2:p.Ala71Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1493G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15733C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9589G>C
  hgvsp: ENSP00000450831.1:p.Ala3197Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8773G>C
  hgvsp: ENSP00000349969.3:p.Ala2925Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15733C>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.311G>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.589G>C
  hgvsp: ENSP00000391937.2:p.Ala197Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19366G>C
  hgvsp: ENSP00000452570.1:p.Ala6456Pro
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6563Pro
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-64685961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685961
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685961
    reference: chr 14
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1499G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*435G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9595G>A
  hgvsp: ENSP00000450831.1:p.Glu3199Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.595G>A
  hgvsp: ENSP00000391937.2:p.Glu199Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1258G>A
  hgvsp: ENSP00000451009.1:p.Glu420Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19693G>A
  hgvsp: ENSP00000350719.3:p.Glu6565Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8779G>A
  hgvsp: ENSP00000349969.3:p.Glu2927Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.317G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8779G>A
  hgvsp: ENSP00000378249.2:p.Glu2927Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1403G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.217G>A
  hgvsp: ENSP00000396794.2:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.973G>A
  hgvsp: ENSP00000450605.1:p.Glu325Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15727C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19624G>A
  hgvsp: ENSP00000341781.4:p.Glu6542Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15727C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19372G>A
  hgvsp: ENSP00000452570.1:p.Glu6458Lys
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu6565Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

14-64685965-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685965
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685965
    reference: chr 14
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8783T>C
  hgvsp: ENSP00000378249.2:p.Leu2928Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1262T>C
  hgvsp: ENSP00000451009.1:p.Leu421Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.321T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8783T>C
  hgvsp: ENSP00000349969.3:p.Leu2928Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1407T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9599T>C
  hgvsp: ENSP00000450831.1:p.Leu3200Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.221T>C
  hgvsp: ENSP00000396794.2:p.Leu74Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*439T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.599T>C
  hgvsp: ENSP00000391937.2:p.Leu200Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19628T>C
  hgvsp: ENSP00000341781.4:p.Leu6543Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19697T>C
  hgvsp: ENSP00000350719.3:p.Leu6566Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19376T>C
  hgvsp: ENSP00000452570.1:p.Leu6459Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15723A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1503T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.977T>C
  hgvsp: ENSP00000450605.1:p.Leu326Pro
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15723A>G
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu6566Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

14-64685971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685971
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685971
    reference: chr 14
allele count: 3
allele frequency: 2.481759070829404e-5
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19382A>G
  hgvsp: ENSP00000452570.1:p.Asn6461Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9605A>G
  hgvsp: ENSP00000450831.1:p.Asn3202Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19703A>G
  hgvsp: ENSP00000350719.3:p.Asn6568Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8789A>G
  hgvsp: ENSP00000349969.3:p.Asn2930Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.605A>G
  hgvsp: ENSP00000391937.2:p.Asn202Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.327A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.983A>G
  hgvsp: ENSP00000450605.1:p.Asn328Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15717T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8789A>G
  hgvsp: ENSP00000378249.2:p.Asn2930Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.227A>G
  hgvsp: ENSP00000396794.2:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1268A>G
  hgvsp: ENSP00000451009.1:p.Asn423Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1509A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*445A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19634A>G
  hgvsp: ENSP00000341781.4:p.Asn6545Ser
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1413A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15717T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn6568Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

14-64685972-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685972
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685972
    reference: chr 14
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1510T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.228T>C
  hgvsp: ENST00000441438.2:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.984T>C
  hgvsp: ENST00000554805.1:c.984T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8790T>C
  hgvsp: ENST00000394768.2:c.8790T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8790T>C
  hgvsp: ENST00000357395.3:c.8790T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15716A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15716A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19635T>C
  hgvsp: ENST00000344113.4:c.19635T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9606T>C
  hgvsp: ENST00000555002.1:c.9606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1269T>C
  hgvsp: ENST00000555022.1:c.1269T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1414T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19704T>C
  hgvsp: ENST00000358025.3:c.19704T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.328T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19383T>C
  hgvsp: ENST00000554584.1:c.19383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.606T>C
  hgvsp: ENST00000458046.2:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*446T>C
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn6568Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

14-64685985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685985
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685985
    reference: chr 14
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1523A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.341A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19396A>G
  hgvsp: ENSP00000452570.1:p.Lys6466Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19717A>G
  hgvsp: ENSP00000350719.3:p.Lys6573Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.997A>G
  hgvsp: ENSP00000450605.1:p.Lys333Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.241A>G
  hgvsp: ENSP00000396794.2:p.Lys81Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19648A>G
  hgvsp: ENSP00000341781.4:p.Lys6550Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8803A>G
  hgvsp: ENSP00000378249.2:p.Lys2935Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1282A>G
  hgvsp: ENSP00000451009.1:p.Lys428Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*459A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15703T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.619A>G
  hgvsp: ENSP00000391937.2:p.Lys207Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8803A>G
  hgvsp: ENSP00000349969.3:p.Lys2935Glu
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1427A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15703T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9619A>G
  hgvsp: ENSP00000450831.1:p.Lys3207Glu
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys6573Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

14-64685994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64685994
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64685994
    reference: chr 14
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19657T>C
  hgvsp: ENST00000344113.4:c.19657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1532T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1436T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8812T>C
  hgvsp: ENST00000394768.2:c.8812T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*468T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8812T>C
  hgvsp: ENST00000357395.3:c.8812T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.250T>C
  hgvsp: ENST00000441438.2:c.250T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9628T>C
  hgvsp: ENST00000555002.1:c.9628T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15694A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.628T>C
  hgvsp: ENST00000458046.2:c.628T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.350T>C
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19405T>C
  hgvsp: ENST00000554584.1:c.19405T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15694A>G
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1006T>C
  hgvsp: ENST00000554805.1:c.1006T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1291T>C
  hgvsp: ENST00000555022.1:c.1291T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19726T>C
  hgvsp: ENST00000358025.3:c.19726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu6576Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-64686008-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686008
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686008
    reference: chr 14
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8826C>G
  hgvsp: ENSP00000349969.3:p.Asn2942Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1020C>G
  hgvsp: ENSP00000450605.1:p.Asn340Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15680G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19740C>G
  hgvsp: ENSP00000350719.3:p.Asn6580Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19671C>G
  hgvsp: ENSP00000341781.4:p.Asn6557Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.364C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9642C>G
  hgvsp: ENSP00000450831.1:p.Asn3214Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8826C>G
  hgvsp: ENSP00000378249.2:p.Asn2942Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*482C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.642C>G
  hgvsp: ENSP00000391937.2:p.Asn214Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1546C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15680G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.264C>G
  hgvsp: ENSP00000396794.2:p.Asn88Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1305C>G
  hgvsp: ENSP00000451009.1:p.Asn435Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19419C>G
  hgvsp: ENSP00000452570.1:p.Asn6473Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1450C>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn6580Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-64686013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686013
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686013
    reference: chr 14
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8831A>G
  hgvsp: ENSP00000378249.2:p.Asp2944Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.647A>G
  hgvsp: ENSP00000391937.2:p.Asp216Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1025A>G
  hgvsp: ENSP00000450605.1:p.Asp342Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19676A>G
  hgvsp: ENSP00000341781.4:p.Asp6559Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1310A>G
  hgvsp: ENSP00000451009.1:p.Asp437Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1455A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15675T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8831A>G
  hgvsp: ENSP00000349969.3:p.Asp2944Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.369A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.269A>G
  hgvsp: ENSP00000396794.2:p.Asp90Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19745A>G
  hgvsp: ENSP00000350719.3:p.Asp6582Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9647A>G
  hgvsp: ENSP00000450831.1:p.Asp3216Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15675T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*487A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1551A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19424A>G
  hgvsp: ENSP00000452570.1:p.Asp6475Gly
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp6582Gly
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

14-64686015-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686015
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686015
    reference: chr 14
allele count: 3
allele frequency: 2.472799208704253e-5
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1457A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9649A>G
  hgvsp: ENSP00000450831.1:p.Ile3217Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*489A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19426A>G
  hgvsp: ENSP00000452570.1:p.Ile6476Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1312A>G
  hgvsp: ENSP00000451009.1:p.Ile438Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.649A>G
  hgvsp: ENSP00000391937.2:p.Ile217Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19747A>G
  hgvsp: ENSP00000350719.3:p.Ile6583Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.271A>G
  hgvsp: ENSP00000396794.2:p.Ile91Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1027A>G
  hgvsp: ENSP00000450605.1:p.Ile343Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19678A>G
  hgvsp: ENSP00000341781.4:p.Ile6560Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8833A>G
  hgvsp: ENSP00000349969.3:p.Ile2945Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.371A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15673T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15673T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1553A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8833A>G
  hgvsp: ENSP00000378249.2:p.Ile2945Val
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile6583Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-64686018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686018
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686018
    reference: chr 14
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1460A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8836A>G
  hgvsp: ENSP00000349969.3:p.Ser2946Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1315A>G
  hgvsp: ENSP00000451009.1:p.Ser439Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.652A>G
  hgvsp: ENSP00000391937.2:p.Ser218Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*492A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15670T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1556A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.274A>G
  hgvsp: ENSP00000396794.2:p.Ser92Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9652A>G
  hgvsp: ENSP00000450831.1:p.Ser3218Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1030A>G
  hgvsp: ENSP00000450605.1:p.Ser344Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19681A>G
  hgvsp: ENSP00000341781.4:p.Ser6561Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19750A>G
  hgvsp: ENSP00000350719.3:p.Ser6584Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8836A>G
  hgvsp: ENSP00000378249.2:p.Ser2946Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19429A>G
  hgvsp: ENSP00000452570.1:p.Ser6477Gly
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.374A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15670T>C
  variant of: http://identifiers.org/hgnc/3468
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser6584Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

14-64686021-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686021
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686021
    reference: chr 14
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1033G>A
  hgvsp: ENSP00000450605.1:p.Ala345Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1559G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1318G>A
  hgvsp: ENSP00000451009.1:p.Ala440Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8839G>A
  hgvsp: ENSP00000349969.3:p.Ala2947Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15667C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19753G>A
  hgvsp: ENSP00000350719.3:p.Ala6585Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*495G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8839G>A
  hgvsp: ENSP00000378249.2:p.Ala2947Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9655G>A
  hgvsp: ENSP00000450831.1:p.Ala3219Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19432G>A
  hgvsp: ENSP00000452570.1:p.Ala6478Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.277G>A
  hgvsp: ENSP00000396794.2:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.655G>A
  hgvsp: ENSP00000391937.2:p.Ala219Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15667C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.377G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19684G>A
  hgvsp: ENSP00000341781.4:p.Ala6562Thr
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1463G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6585Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-64686022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686022
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686022
    reference: chr 14
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1034C>T
  hgvsp: ENSP00000450605.1:p.Ala345Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.278C>T
  hgvsp: ENSP00000396794.2:p.Ala93Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15666G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1319C>T
  hgvsp: ENSP00000451009.1:p.Ala440Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8840C>T
  hgvsp: ENSP00000349969.3:p.Ala2947Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9656C>T
  hgvsp: ENSP00000450831.1:p.Ala3219Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.378C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15666G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19754C>T
  hgvsp: ENSP00000350719.3:p.Ala6585Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19685C>T
  hgvsp: ENSP00000341781.4:p.Ala6562Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*496C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19433C>T
  hgvsp: ENSP00000452570.1:p.Ala6478Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1464C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1560C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8840C>T
  hgvsp: ENSP00000378249.2:p.Ala2947Val
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.656C>T
  hgvsp: ENSP00000391937.2:p.Ala219Val
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6585Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

14-64686023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686023
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686023
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.379C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.279C>T
  hgvsp: ENST00000441438.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1465C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8841C>T
  hgvsp: ENST00000394768.2:c.8841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19755C>T
  hgvsp: ENST00000358025.3:c.19755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.657C>T
  hgvsp: ENST00000458046.2:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19686C>T
  hgvsp: ENST00000344113.4:c.19686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8841C>T
  hgvsp: ENST00000357395.3:c.8841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15665G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1035C>T
  hgvsp: ENST00000554805.1:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19434C>T
  hgvsp: ENST00000554584.1:c.19434C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1320C>T
  hgvsp: ENST00000555022.1:c.1320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1561C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15665G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9657C>T
  hgvsp: ENST00000555002.1:c.9657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala6585Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

14-64686026-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686026
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686026
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19689C>G
  hgvsp: ENSP00000341781.4:p.Ile6563Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.382C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.660C>G
  hgvsp: ENSP00000391937.2:p.Ile220Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1468C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1323C>G
  hgvsp: ENSP00000451009.1:p.Ile441Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.282C>G
  hgvsp: ENSP00000396794.2:p.Ile94Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9660C>G
  hgvsp: ENSP00000450831.1:p.Ile3220Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15662G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19758C>G
  hgvsp: ENSP00000350719.3:p.Ile6586Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8844C>G
  hgvsp: ENSP00000378249.2:p.Ile2948Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19437C>G
  hgvsp: ENSP00000452570.1:p.Ile6479Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15662G>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*500C>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8844C>G
  hgvsp: ENSP00000349969.3:p.Ile2948Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1038C>G
  hgvsp: ENSP00000450605.1:p.Ile346Met
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1564C>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile6586Met
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

14-64686030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686030
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686030
    reference: chr 14
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1042A>G
  hgvsp: ENSP00000450605.1:p.Thr348Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19693A>G
  hgvsp: ENSP00000341781.4:p.Thr6565Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8848A>G
  hgvsp: ENSP00000378249.2:p.Thr2950Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19441A>G
  hgvsp: ENSP00000452570.1:p.Thr6481Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19762A>G
  hgvsp: ENSP00000350719.3:p.Thr6588Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9664A>G
  hgvsp: ENSP00000450831.1:p.Thr3222Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1568A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.386A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1327A>G
  hgvsp: ENSP00000451009.1:p.Thr443Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.286A>G
  hgvsp: ENSP00000396794.2:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*504A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8848A>G
  hgvsp: ENSP00000349969.3:p.Thr2950Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15658T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.664A>G
  hgvsp: ENSP00000391937.2:p.Thr222Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15658T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1472A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr6588Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

14-64686031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686031
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686031
    reference: chr 14
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9665C>T
  hgvsp: ENSP00000450831.1:p.Thr3222Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19694C>T
  hgvsp: ENSP00000341781.4:p.Thr6565Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.665C>T
  hgvsp: ENSP00000391937.2:p.Thr222Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450789
  ensembl transcript: ENST00000557084
  gene symbol: SYNE2
  hgvsc: ENST00000557084.1:c.*505C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1043C>T
  hgvsp: ENSP00000450605.1:p.Thr348Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19442C>T
  hgvsp: ENSP00000452570.1:p.Thr6481Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8849C>T
  hgvsp: ENSP00000349969.3:p.Thr2950Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.287C>T
  hgvsp: ENSP00000396794.2:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1328C>T
  hgvsp: ENSP00000451009.1:p.Thr443Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15657G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19763C>T
  hgvsp: ENSP00000350719.3:p.Thr6588Ile
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1473C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1569C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.387C>T
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15657G>A
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8849C>T
  hgvsp: ENSP00000378249.2:p.Thr2950Ile
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr6588Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

14-64686045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686045
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686045
    reference: chr 14
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8863A>G
  hgvsp: ENSP00000378249.2:p.Thr2955Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9679A>G
  hgvsp: ENSP00000450831.1:p.Thr3227Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1487A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15643T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.401A>G
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.301A>G
  hgvsp: ENSP00000396794.2:p.Thr101Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15643T>C
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19777A>G
  hgvsp: ENSP00000350719.3:p.Thr6593Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1057A>G
  hgvsp: ENSP00000450605.1:p.Thr353Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1342A>G
  hgvsp: ENSP00000451009.1:p.Thr448Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19708A>G
  hgvsp: ENSP00000341781.4:p.Thr6570Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8863A>G
  hgvsp: ENSP00000349969.3:p.Thr2955Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19456A>G
  hgvsp: ENSP00000452570.1:p.Thr6486Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.679A>G
  hgvsp: ENSP00000391937.2:p.Thr227Ala
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1583A>G
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr6593Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

14-64686048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 64686048
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 64686048
    reference: chr 14
allele count: 9
allele frequency: 7.417541661859001e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000349969
  ensembl transcript: ENST00000357395
  gene symbol: SYNE2
  hgvsc: ENST00000357395.3:c.8866G>A
  hgvsp: ENSP00000349969.3:p.Glu2956Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451972
  ensembl transcript: ENST00000555612
  gene symbol: SYNE2
  hgvsc: ENST00000555612.1:c.*1490G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450831
  ensembl transcript: ENST00000555002
  gene symbol: SYNE2
  hgvsc: ENST00000555002.1:c.9682G>A
  hgvsp: ENSP00000450831.1:p.Glu3228Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000452570
  ensembl transcript: ENST00000554584
  gene symbol: SYNE2
  hgvsc: ENST00000554584.1:c.19459G>A
  hgvsp: ENSP00000452570.1:p.Glu6487Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000378249
  ensembl transcript: ENST00000394768
  gene symbol: SYNE2
  hgvsc: ENST00000394768.2:c.8866G>A
  hgvsp: ENSP00000378249.2:p.Glu2956Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000341781
  ensembl transcript: ENST00000344113
  gene symbol: SYNE2
  hgvsc: ENST00000344113.4:c.19711G>A
  hgvsp: ENSP00000341781.4:p.Glu6571Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451184
  ensembl transcript: ENST00000553289
  gene symbol: SYNE2
  hgvsc: ENST00000553289.1:c.*1586G>A
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000450605
  ensembl transcript: ENST00000554805
  gene symbol: SYNE2
  hgvsc: ENST00000554805.1:c.1060G>A
  hgvsp: ENSP00000450605.1:p.Glu354Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000451009
  ensembl transcript: ENST00000555022
  gene symbol: SYNE2
  hgvsc: ENST00000555022.1:c.1345G>A
  hgvsp: ENSP00000451009.1:p.Glu449Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000452485
  ensembl transcript: ENST00000556275
  gene symbol: ESR2
  hgvsc: ENST00000556275.1:c.*15640C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000396794
  ensembl transcript: ENST00000441438
  gene symbol: SYNE2
  hgvsc: ENST00000441438.2:c.304G>A
  hgvsp: ENSP00000396794.2:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000350719
  ensembl transcript: ENST00000358025
  gene symbol: SYNE2
  hgvsc: ENST00000358025.3:c.19780G>A
  hgvsp: ENSP00000350719.3:p.Glu6594Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054654
  ensembl protein: ENSP00000391937
  ensembl transcript: ENST00000458046
  gene symbol: SYNE2
  hgvsc: ENST00000458046.2:c.682G>A
  hgvsp: ENSP00000391937.2:p.Glu228Lys
  variant of: http://identifiers.org/hgnc/17084
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000140009
  ensembl protein: ENSP00000441792
  ensembl transcript: ENST00000542956
  gene symbol: ESR2
  hgvsc: ENST00000542956.1:c.1406+15640C>T
  variant of: http://identifiers.org/hgnc/3468
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054654
  ensembl transcript: ENST00000554928
  gene symbol: SYNE2
  hgvsc: ENST00000554928.1:n.404G>A
  variant of: http://identifiers.org/hgnc/17084
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu6594Lys
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 542
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1472
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 381
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 909
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12072
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7441
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 41652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.533091568449683e-5
allele num: 66180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.745106e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

GenotypeDepth
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34395
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 555
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 489
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 752
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3846
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7443
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4674
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41689
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.212858384013901e-4
allele num: 11510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.745242e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 2.609e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

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

GenotypeDepth
all individuals: 380
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3820
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 910
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 504
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1471
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 793
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4691
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41720
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variant carriers: 0

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

GenotypeQuality
all individuals: 192
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7438
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.74442e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.942e0

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 5.797e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

GenotypeDepth
all individuals: 750
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 648
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 907
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 754
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variant carriers: 0

GenotypeDepth
all individuals: 212
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 434
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variant carriers: 0

GenotypeDepth
all individuals: 599
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variant carriers: 0

GenotypeDepth
all individuals: 676
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.677e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

DP
type: SiteQuality
SIO_000300: 1.742671e6

FS
type: SiteQuality
SIO_000300: 1.4448e1

QD
type: SiteQuality
SIO_000300: 1.442e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

GenotypeDepth
all individuals: 907
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 754
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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
all individuals: 3
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GenotypeQuality
all individuals: 144
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6
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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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variant carriers: 0

GenotypeQuality
all individuals: 1608
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GenotypeQuality
all individuals: 886
bin: 2.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 1.196e0

QD
type: SiteQuality
SIO_000300: 1.08e1

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

DP
type: SiteQuality
SIO_000300: 1.742734e6

GenotypeDepth
all individuals: 212
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variant carriers: 0

GenotypeDepth
all individuals: 750
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variant carriers: 0

GenotypeDepth
all individuals: 3834
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variant carriers: 0

GenotypeDepth
all individuals: 754
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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: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.226241569589209e-4
allele num: 16310
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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -8.4e-1

QD
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SIO_000300: 1.037e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.36e0

FS
type: SiteQuality
SIO_000300: 1.1745e1

ClippingRankSum
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SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 1.741295e6

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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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: 4

African
type: Population
allele count: 3
allele frequency: 2.933124755572937e-4
allele num: 10228
num of homozygotes: 0

Other
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: 6594
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514187941007238e-5
allele num: 66042
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
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SIO_000300: 6.0e1

DP
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VQSLOD
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QD
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SIO_000300: 1.279e1

FS
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SIO_000300: 4.611e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

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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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

South Asian
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allele count: 19
allele frequency: 1.166073401251995e-3
allele num: 16294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.120312594656812e-4
allele num: 66028
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.044e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 1.740816e6

GenotypeDepth
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variant carriers: 336

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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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 1070
allele frequency: 1.622047721553527e-2
allele num: 65966
num of homozygotes: 15

African
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allele count: 33
allele frequency: 3.232125367286974e-3
allele num: 10210
num of homozygotes: 0

European (Finnish)
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allele count: 29
allele frequency: 4.403279684178561e-3
allele num: 6586
num of homozygotes: 0

Latino
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allele count: 83
allele frequency: 7.224930362116992e-3
allele num: 11488
num of homozygotes: 0

South Asian
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allele count: 415
allele frequency: 2.551334071068486e-2
allele num: 16266
num of homozygotes: 9

Other
type: Population
allele count: 10
allele frequency: 1.123595505617977e-2
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.12e-1

InbreedingCoeff
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SIO_000300: 1.59e-2

MQRankSum
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BaseQRankSum
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DP
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MQ
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SIO_000300: 5.978e1

QD
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VQSLOD
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ClippingRankSum
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SIO_000300: -1.83e-1

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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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
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MQ
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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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
all individuals: 1550
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.149130832570906e-5
allele num: 65580
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10154
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

InbreedingCoeff
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SIO_000300: -5.0e-4

ReadPosRankSum
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MQ
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SIO_000300: 5.924e1

BaseQRankSum
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SIO_000300: 9.81e-1

MQRankSum
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SIO_000300: -1.86e-1

QD
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SIO_000300: 1.807e1

FS
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: -6.52e-1

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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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 count: 3
allele frequency: 4.609427816360396e-5
allele num: 65084
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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.499687539057618e-4
allele num: 16002
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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SIO_000300: 1.695247e6

VQSLOD
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SIO_000300: 1.69e0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
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 count: 0
allele frequency: 0.0e0
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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: 9
allele frequency: 1.390863571737652e-4
allele num: 64708
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.276675872457946e-5
allele num: 15932
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
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SIO_000300: 2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 2.784e0

VQSLOD
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BaseQRankSum
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QD
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DP
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SIO_000300: 1.672554e6

ClippingRankSum
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SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.561816705191479e-5
allele num: 64028
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10792
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 frequency: 0.0e0
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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MQ
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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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num of homozygotes: 0

East Asian
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Latino
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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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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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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South Asian
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European (Finnish)
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.570499733015045e-5
allele num: 63674
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.349289454001496e-5
allele num: 10696
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 840
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

East Asian
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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: 7.511e0

BaseQRankSum
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SIO_000300: -9.340000000000001e-1

DP
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 7.67e-1

MQRankSum
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SIO_000300: 9.29e-1

InbreedingCoeff
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SIO_000300: -1.7e-3

ClippingRankSum
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63374
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.275184901810763e-4
allele num: 15684
num of homozygotes: 0

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

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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SIO_000300: 3.229e0

MQRankSum
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MQ
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SIO_000300: 5.942e1

ReadPosRankSum
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SIO_000300: 5.99e-1

QD
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SIO_000300: 1.392e1

VQSLOD
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SIO_000300: 2.09e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

Other
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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 count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.580028440511929e-5
allele num: 63290
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.540579e6

InbreedingCoeff
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SIO_000300: 1.8e-3

MQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
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SIO_000300: -2.365e0

ReadPosRankSum
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SIO_000300: 6.67e-1

ClippingRankSum
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SIO_000300: -1.333e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 5.29e0

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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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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

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

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

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

QD
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SIO_000300: 1.589e1

FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

InbreedingCoeff
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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: 1

East Asian
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allele num: 7922
num of homozygotes: 0

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

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641550937325585e-5
allele num: 60918
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

African
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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 count: 0
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

QD
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SIO_000300: 7.67e0

ReadPosRankSum
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SIO_000300: -2.27e-1

InbreedingCoeff
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SIO_000300: 8.0e-3

VQSLOD
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BaseQRankSum
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SIO_000300: -8.61e-1

DP
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SIO_000300: 1.525351e6

MQRankSum
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SIO_000300: -2.22e-1

FS
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SIO_000300: 2.238e0

ClippingRankSum
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SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.045e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11108
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.641550937325585e-5
allele num: 60918
num of homozygotes: 0

African
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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

South Asian
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allele count: 3
allele frequency: 1.899455489426364e-4
allele num: 15794
num of homozygotes: 0

FS
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SIO_000300: 2.238e0

ReadPosRankSum
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SIO_000300: -2.27e-1

ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 8.0e-3

BaseQRankSum
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SIO_000300: -8.61e-1

MQ
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SIO_000300: 6.045e1

VQSLOD
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SIO_000300: 1.42e0

DP
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SIO_000300: 1.525351e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.146263182026593e-4
allele num: 8724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61424
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.307e1

ReadPosRankSum
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SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ClippingRankSum
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SIO_000300: -1.939e0

BaseQRankSum
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SIO_000300: 3.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.538329e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.596882884609243e-5
allele num: 62622
num of homozygotes: 0

Other
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allele count: 0
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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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
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SIO_000300: 1.577659e6

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 8.72e-1

QD
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SIO_000300: 1.422e1

MQRankSum
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SIO_000300: 2.07e0

ClippingRankSum
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SIO_000300: 3.19e-1

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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allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.352692451187663e-4
allele num: 16082
num of homozygotes: 0

African
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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 count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62718
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
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BaseQRankSum
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SIO_000300: 3.8e-2

MQ
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VQSLOD
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FS
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ReadPosRankSum
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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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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 (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63172
num of homozygotes: 0

Latino
type: Population
allele count: 0
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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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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Other
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East Asian
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allele frequency: 8.538667967797023e-4
allele num: 8198
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.597753e6

ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2495
bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6136
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577237311125832e-5
allele num: 63402
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 5.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.644e0

DP
type: SiteQuality
SIO_000300: 1.604151e6

FS
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

GenotypeDepth
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1224
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 532
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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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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

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: 1622
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variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.100594320933304e-4
allele num: 9086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.72455825380327e-5
allele num: 63498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 5.69e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.607562e6

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeDepth
all individuals: 715
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 175
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 50
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2172
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variant carriers: 0

GenotypeQuality
all individuals: 7059
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.149705502535513e-5
allele num: 63498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.607562e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeDepth
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2073
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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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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 715
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2577
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variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 7061
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.584e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.619084e6

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQ
type: SiteQuality
SIO_000300: 6.007e1

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeDepth
all individuals: 650
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 35840
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variant carriers: 0

GenotypeDepth
all individuals: 439
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variant carriers: 0

GenotypeDepth
all individuals: 102
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variant carriers: 0

GenotypeDepth
all individuals: 671
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variant carriers: 1

GenotypeDepth
all individuals: 1173
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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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GenotypeQuality
all individuals: 7082
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.615062761506276e-4
allele num: 11472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.588138133545408e-5
allele num: 65386
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.648847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 1.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.479e0

QD
type: SiteQuality
SIO_000300: 1.018e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

GenotypeDepth
all individuals: 718
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variant carriers: 0

GenotypeDepth
all individuals: 752
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variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeDepth
all individuals: 80
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GenotypeDepth
all individuals: 136
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variant carriers: 0

GenotypeDepth
all individuals: 784
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variant carriers: 0

GenotypeDepth
all individuals: 669
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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
all individuals: 11706
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GenotypeDepth
all individuals: 467
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variant carriers: 0

GenotypeDepth
all individuals: 175
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GenotypeQuality
all individuals: 6621
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 724
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7089
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1727
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
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GenotypeQuality
all individuals: 2326
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523090045083465e-5
allele num: 65656
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16452
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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

DP
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SIO_000300: 1.655572e6

InbreedingCoeff
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SIO_000300: 2.7e-3

QD
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SIO_000300: 1.274e1

ClippingRankSum
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SIO_000300: -1.97e-1

FS
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SIO_000300: 1.275e0

ReadPosRankSum
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SIO_000300: 7.55e-1

MQRankSum
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SIO_000300: 9.21e-1

VQSLOD
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SIO_000300: -9.886e-1

MQ
type: SiteQuality
SIO_000300: 5.66e1

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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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

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

South Asian
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allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
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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: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -2.929e0

MQRankSum
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SIO_000300: -4.54e-1

VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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SIO_000300: -1.604e0

FS
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SIO_000300: 1.558e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
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SIO_000300: 1.72e0

DP
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SIO_000300: 1.664305e6

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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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: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
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
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.665351e6

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

InbreedingCoeff
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SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

BaseQRankSum
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SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

FS
type: SiteQuality
SIO_000300: 2.307e0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

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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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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South Asian
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allele count: 2
allele frequency: 1.212856276531231e-4
allele num: 16490
num of homozygotes: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

African
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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 count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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FS
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SIO_000300: 0.0e0

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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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

European (Non-Finnish)
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num of homozygotes: 0

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

African
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allele frequency: 9.771350400625366e-5
allele num: 10234
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European (Non-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 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: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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MQ
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.19e0

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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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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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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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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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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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
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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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.312138728323699e-4
allele num: 8650
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
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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: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ClippingRankSum
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SIO_000300: -4.72e-1

BaseQRankSum
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SIO_000300: 4.57e0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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MQ
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SIO_000300: 5.961e1

QD
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ReadPosRankSum
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SIO_000300: 5.56e-1

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496402877697842e-5
allele num: 66720
num of homozygotes: 0

South Asian
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Other
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African
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BaseQRankSum
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MQ
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InbreedingCoeff
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DP
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FS
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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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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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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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66720
num of homozygotes: 0

Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

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

European (Finnish)
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East Asian
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allele num: 8650
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South Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.06e-1

VQSLOD
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DP
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SIO_000300: 1.682376e6

MQ
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SIO_000300: 5.948e1

ReadPosRankSum
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SIO_000300: 1.12e-1

BaseQRankSum
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SIO_000300: -8.4e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.5e-2

QD
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SIO_000300: 1.422e1

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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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: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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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 (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

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

South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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MQ
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DP
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MQRankSum
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ClippingRankSum
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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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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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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: 2.0e-4

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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SIO_000300: 1.682099e6

QD
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SIO_000300: 4.29e0

ClippingRankSum
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SIO_000300: -1.638e0

MQ
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SIO_000300: 5.953e1

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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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
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num of homozygotes: 0

East Asian
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South Asian
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Latino
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allele frequency: 0.0e0
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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
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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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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European (Non-Finnish)
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allele num: 66716
num of homozygotes: 0

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

GenotypeQuality
all individuals: 6877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37830
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.682543e6

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.203e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-2